| 10q11.22q11.23 deletion syndrome | 1 | Mar 23, 2023 |
| 12p13.33 duplication syndrome | 1 | Feb 24, 2022 |
| 14q11.2 microduplication syndrome | 1 | Feb 17, 2022 |
| 15q11.2 BP1-BP2 recurrent deletion | 1 | May 15, 2024 |
| 15q11q13 microduplication syndrome | 2 | Feb 17, 2022 |
| 16p13.11 microduplication syndrome | 2 | May 15, 2024 |
| 16p13.11 recurrent microdeletion syndrome | 1 | Mar 23, 2023 |
| 1q21.1 microdeletion syndrome (BP3-BP4, distal) | 1 | Nov 22, 2023 |
| 20q13.13qter duplication | 1 | May 15, 2024 |
| 22q11.2 deletion syndrome | 1 | Mar 23, 2023 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | Feb 24, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Dec 5, 2024 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Feb 17, 2022 |
| 46,XY sex reversal 3 | 1 | May 15, 2024 |
| 4p partial monosomy syndrome | 1 | Feb 17, 2022 |
| 5q14.3 microdeletion | 1 | May 15, 2024 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Dec 5, 2024 |
| 6q22.1 Microdeletion Syndrome | 1 | Dec 5, 2024 |
| 7p22.1 microduplication syndrome | 2 | Jul 6, 2022 |
| 8q24.3 microdeletion syndrome | 2 | Aug 17, 2022 |
| ADAMTS19-associated congenital heartdefect | 1 | Jul 6, 2022 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 | Jul 6, 2022 |
| AGMO-related Neurodevelopmental disorder | 2 | Aug 17, 2022 |
| AGO1-related Intellectual disability | 1 | Feb 24, 2022 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 | Dec 5, 2024 |
| AKAP6-related Intellectual Disability | 1 | Dec 5, 2024 |
| AKNA-related autism spectrum disorder | 1 | Jul 6, 2022 |
| ALDH18A1-related de Barsy syndrome | 1 | May 5, 2022 |
| ALG1-congenital disorder of glycosylation | 3 | Nov 21, 2021 |
| ALG11-congenital disorder of glycosylation | 1 | Nov 21, 2021 |
| ALG3-congenital disorder of glycosylation | 1 | Dec 5, 2024 |
| ALG9 congenital disorder of glycosylation | 3 | Nov 21, 2021 |
| ANK2-associated Complex Neurodevelopmental Disorder | 3 | Jul 6, 2022 |
| ANK2-associated Neurodevelopmental Disorder | 2 | Feb 24, 2022 |
| ANK2-related Autism | 4 | Dec 5, 2024 |
| ANK3-related neurodevelopmental disorder | 2 | Jul 6, 2022 |
| ARHGEF6-associated Neurodevelopmental disorder | 1 | Aug 17, 2022 |
| ATP10B-associated developmental disorder | 1 | Jul 6, 2022 |
| ATP2B2-related Progressive hearing impairment | 1 | Jul 6, 2022 |
| Aarskog syndrome | 1 | May 15, 2024 |
| Abdominal obesity-metabolic syndrome 3 | 5 | Nov 22, 2023 |
| Abetalipoproteinaemia | 9 | Nov 22, 2023 |
| Absence seizure | 3 | Feb 24, 2022 |
| Achondroplasia | 1 | May 15, 2024 |
| Acne inversa, familial, 1 | 1 | Feb 17, 2022 |
| Acrodysostosis 2 with or without hormone resistance | 2 | Dec 5, 2024 |
| Acrokeratosis verruciformis of Hopf | 1 | Feb 24, 2022 |
| Acromicric dysplasia | 1 | Feb 24, 2022 |
| Action myoclonus-renal failure syndrome | 1 | Dec 5, 2024 |
| Acute intermittent porphyria | 1 | Feb 17, 2022 |
| Acyl-CoA oxidase deficiency | 1 | Nov 22, 2023 |
| Adams-Oliver syndrome 3 | 2 | Jul 6, 2022 |
| Adams-Oliver syndrome 5 | 3 | Dec 5, 2024 |
| Adenylosuccinate lyase deficiency | 2 | Feb 24, 2022 |
| Adrenoleukodystrophy | 1 | Jul 6, 2022 |
| Advanced sleep phase syndrome 1 | 1 | Dec 5, 2024 |
| Advanced sleep phase syndrome 3 | 1 | Feb 24, 2022 |
| Agammaglobulinemia 2, autosomal recessive | 3 | Feb 17, 2022 |
| Agammaglobulinemia 3, autosomal recessive | 1 | Jul 6, 2022 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Jul 6, 2022 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Jul 6, 2022 |
| Agammaglobulinemia 8, autosomal dominant | 2 | Feb 24, 2022 |
| Aicardi-Goutieres syndrome 1 | 1 | Feb 5, 2021 |
| Aicardi-Goutieres syndrome 2 | 2 | Feb 17, 2022 |
| Aicardi-Goutieres syndrome 4 | 1 | Jul 6, 2022 |
| Aicardi-Goutieres syndrome 5 | 2 | Jul 6, 2022 |
| Aicardi-Goutieres syndrome 6 | 1 | Feb 5, 2021 |
| Aicardi-Goutieres syndrome 7 | 6 | May 15, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Feb 17, 2022 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 7 | Dec 5, 2024 |
| Alexander disease | 2 | Dec 5, 2024 |
| Alkuraya-Kucinskas syndrome | 2 | May 5, 2022 |
| Allan-Herndon-Dudley syndrome | 1 | May 5, 2022 |
| Alopecia-intellectual disability syndrome 4 | 2 | Aug 17, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 7 | Dec 5, 2024 |
| Alpha-methylacyl-CoA racemase deficiency | 1 | Dec 5, 2024 |
| Alstrom syndrome | 41 | Nov 22, 2023 |
| Alternating hemiplegia of childhood 1 | 3 | Jul 6, 2022 |
| Alternating hemiplegia of childhood 2 | 1 | Jul 6, 2022 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | May 15, 2024 |
| Amelocerebrohypohidrotic syndrome | 4 | Dec 5, 2024 |
| Aminoacylase 1 deficiency | 2 | Jul 6, 2022 |
| Aminoglycoside Ototoxicity | 1 | May 15, 2024 |
| Aminoglycoside induced ototoxicity | 1 | May 15, 2024 |
| Amyloidosis, hereditary systemic 1 | 1 | May 1, 2023 |
| Amyotrophic lateral sclerosis type 21 | 1 | May 5, 2022 |
| Amyotrophic lateral sclerosis type 4 | 1 | Sep 15, 2023 |
| Amyotrophic neuralgia | 1 | May 24, 2023 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 | May 15, 2024 |
| Angelman syndrome | 2 | Jul 6, 2022 |
| Aortic aneurysm, familial thoracic 12 | 1 | Sep 15, 2023 |
| Aortic aneurysm, familial thoracic 4 | 1 | Nov 22, 2023 |
| Aortic aneurysm, familial thoracic 7 | 1 | Nov 22, 2023 |
| Aortic valve disease 1 | 4 | Dec 5, 2024 |
| Aortic valve disease 2 | 4 | Dec 5, 2024 |
| Apolipoprotein c-III deficiency | 2 | Dec 5, 2022 |
| Arginine:glycine amidinotransferase deficiency | 1 | May 17, 2021 |
| Argininosuccinate lyase deficiency | 1 | Aug 17, 2022 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 3 | May 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 1 | 1 | May 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 10 | 2 | May 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 11 | 2 | May 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 12 | 2 | May 1, 2023 |
| Arrhythmogenic right ventricular dysplasia 13 | 4 | Dec 5, 2024 |
| Arrhythmogenic right ventricular dysplasia 2 | 2 | Dec 5, 2022 |
| Arrhythmogenic right ventricular dysplasia 5 | 2 | Nov 22, 2023 |
| Arrhythmogenic right ventricular dysplasia 8 | 10 | Nov 22, 2023 |
| Arrhythmogenic right ventricular dysplasia 9 | 4 | May 1, 2023 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 4 | Sep 15, 2023 |
| Arthrogryposis multiplex congenita 6 | 2 | Nov 22, 2023 |
| Arthrogryposis, distal, type 2B2 | 1 | May 15, 2024 |
| Arthrogryposis, distal, type 2B3 | 1 | Dec 5, 2024 |
| Arthrogryposis, distal, with impaired proprioception and touch | 3 | Dec 5, 2024 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 3 | Dec 5, 2024 |
| Ataxia - oculomotor apraxia type 4 | 2 | Dec 5, 2024 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 2 | May 5, 2022 |
| Ataxia-pancytopenia syndrome | 3 | May 5, 2022 |
| Ataxia-telangiectasia syndrome | 1 | May 5, 2022 |
| Ataxia-telangiectasia-like disorder 1 | 2 | May 15, 2024 |
| Atelosteogenesis type I | 1 | Nov 22, 2023 |
| Atelosteogenesis type III | 2 | Nov 22, 2023 |
| Atrial conduction disease | 2 | Sep 15, 2023 |
| Atrial fibrillation, familial, 10 | 2 | Sep 15, 2023 |
| Atrial fibrillation, familial, 15 | 1 | Dec 5, 2024 |
| Atrial fibrillation, familial, 18 | 1 | Sep 15, 2023 |
| Atrial fibrillation, familial, 3 | 9 | May 15, 2024 |
| Atrial fibrillation, familial, 4 | 2 | May 1, 2023 |
| Atrial fibrillation, familial, 7 | 1 | Sep 15, 2023 |
| Atrial septal defect 6 | 1 | Nov 21, 2021 |
| Atrial septal defect 7 | 2 | Dec 5, 2024 |
| Atypical Leigh syndrome | 1 | May 5, 2022 |
| Au-Kline syndrome | 3 | Sep 15, 2023 |
| Aural atresia, congenital | 1 | May 17, 2021 |
| Autism spectrum disorder | 1 | Feb 24, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 11 | Jul 6, 2022 |
| Autism, susceptibility to, 15 | 1 | Aug 17, 2022 |
| Autism, susceptibility to, 16 | 1 | Feb 5, 2021 |
| Autism, susceptibility to, 17 | 5 | May 5, 2022 |
| Autism, susceptibility to, 20 | 1 | Dec 5, 2024 |
| Autism, susceptibility to, 5 | 2 | Jul 6, 2022 |
| Autism, susceptibility to, X-linked 1 | 1 | May 17, 2021 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Dec 5, 2024 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 | Feb 5, 2021 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | May 5, 2022 |
| Autoimmune lymphoproliferative syndrome type 2B | 2 | Jul 22, 2021 |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 | Feb 24, 2022 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Feb 5, 2021 |
| Autosomal dominant Opitz G/BBB syndrome | 2 | Nov 21, 2021 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | May 5, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 4 | May 15, 2024 |
| Autosomal dominant distal renal tubular acidosis | 1 | Feb 17, 2022 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Nov 22, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 5 | Dec 5, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 4 | Dec 5, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 6 | Dec 5, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 5 | Dec 5, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 5 | Dec 5, 2024 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Sep 15, 2023 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Dec 5, 2024 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Sep 15, 2023 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Feb 24, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Sep 15, 2023 |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 | Feb 5, 2021 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Sep 15, 2023 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Jul 6, 2022 |
| Autosomal dominant omodysplasia | 1 | May 17, 2021 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 | Feb 24, 2022 |
| Autosomal recessive Alport syndrome | 1 | Nov 21, 2021 |
| Autosomal recessive ataxia, Beauce type | 1 | Dec 5, 2024 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | May 5, 2022 |
| Autosomal recessive congenital ichthyosis 10 | 1 | Nov 22, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Feb 24, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | Nov 22, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 | May 15, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 4 | May 15, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Feb 17, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 | Dec 5, 2024 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Sep 15, 2023 |
| Autosomal recessive multiple pterygium syndrome | 1 | Dec 5, 2024 |
| Autosomal recessive nonsyndromic hearing loss 18B | 2 | Dec 5, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 | Jul 22, 2021 |
| Autosomal recessive nonsyndromic hearing loss 26 | 1 | Dec 5, 2024 |
| Autosomal recessive spinocerebellar ataxia 14 | 2 | Aug 17, 2022 |
| Autosomal recessive spinocerebellar ataxia 17 | 2 | Feb 5, 2021 |
| Autosomal recessive spinocerebellar ataxia 7 | 1 | Dec 5, 2024 |
| Avellino corneal dystrophy | 1 | May 5, 2022 |
| Ayme-Gripp syndrome | 4 | Dec 5, 2024 |
| BAZ2B-related Neurodevelopmental disorder | 3 | May 1, 2023 |
| BOD1-related Intellectual Disability | 1 | Dec 5, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 7 | May 1, 2023 |
| BRSK2-related Intellectual Disability and Autism | 1 | Jul 6, 2022 |
| BSCL2-related Developmental and epileptic encephalopathy | 1 | Feb 17, 2022 |
| Baraitser-Winter syndrome 1 | 2 | Feb 17, 2022 |
| Bardet-Biedl syndrome 1 | 9 | Nov 22, 2023 |
| Bardet-Biedl syndrome 10 | 3 | Sep 15, 2023 |
| Bardet-Biedl syndrome 12 | 6 | Sep 15, 2023 |
| Bardet-Biedl syndrome 13 | 11 | Sep 15, 2023 |
| Bardet-Biedl syndrome 14 | 3 | Dec 5, 2022 |
| Bardet-Biedl syndrome 16 | 2 | Nov 22, 2023 |
| Bardet-Biedl syndrome 17 | 2 | Sep 15, 2023 |
| Bardet-Biedl syndrome 18 | 1 | Dec 5, 2022 |
| Bardet-Biedl syndrome 2 | 6 | Nov 22, 2023 |
| Bardet-Biedl syndrome 20 | 7 | Sep 15, 2023 |
| Bardet-Biedl syndrome 22 | 1 | May 1, 2023 |
| Bardet-Biedl syndrome 3 | 2 | Sep 15, 2023 |
| Bardet-Biedl syndrome 4 | 6 | Dec 5, 2024 |
| Bardet-Biedl syndrome 5 | 4 | Nov 22, 2023 |
| Bardet-Biedl syndrome 6 | 6 | Sep 15, 2023 |
| Bardet-Biedl syndrome 7 | 5 | Nov 22, 2023 |
| Bardet-Biedl syndrome 8 | 8 | Sep 15, 2023 |
| Bardet-Biedl syndrome 9 | 9 | Dec 5, 2024 |
| Bartter disease type 2 | 2 | Dec 5, 2024 |
| Basal cell nevus syndrome 2 | 1 | Nov 22, 2023 |
| Basal ganglia calcification, idiopathic, 6 | 1 | Dec 5, 2024 |
| Basilicata-Akhtar syndrome | 3 | Dec 5, 2024 |
| Beck-Fahrner syndrome | 10 | Dec 5, 2024 |
| Becker muscular dystrophy | 1 | May 5, 2022 |
| Beckwith-Wiedemann syndrome | 2 | Jul 6, 2022 |
| Beta-D-mannosidosis | 1 | Nov 21, 2021 |
| Bethlem myopathy 2 | 2 | Nov 22, 2023 |
| Bifunctional peroxisomal enzyme deficiency | 2 | May 5, 2022 |
| Bilateral frontoparietal polymicrogyria | 2 | Dec 5, 2024 |
| Biotin-responsive basal ganglia disease | 1 | Dec 5, 2024 |
| Biotinidase deficiency | 2 | May 5, 2022 |
| Blau syndrome | 3 | May 5, 2022 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Jul 6, 2022 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 5 | Dec 5, 2024 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | May 5, 2022 |
| Bloom syndrome | 1 | Feb 24, 2022 |
| Body mass index quantitative trait locus 12 | 4 | Sep 15, 2023 |
| Bohring-Opitz syndrome | 3 | Aug 17, 2022 |
| Bone marrow failure syndrome 6 | 1 | May 5, 2022 |
| Boomerang dysplasia | 1 | Nov 22, 2023 |
| Borjeson-Forssman-Lehmann syndrome | 1 | May 1, 2023 |
| Brachyolmia-amelogenesis imperfecta syndrome | 1 | Nov 22, 2023 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Feb 17, 2022 |
| Brain dopamine-serotonin vesicular transport disease | 1 | May 17, 2021 |
| Brain small vessel disease 1 with or without ocular anomalies | 4 | Nov 22, 2023 |
| Branched-chain keto acid dehydrogenase kinase deficiency | 1 | Dec 5, 2024 |
| Branchiootic syndrome 1 | 1 | May 15, 2024 |
| Branchiootic syndrome 3 | 1 | Feb 17, 2022 |
| Branchiootorenal syndrome 1 | 1 | May 15, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 6 | May 15, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 7 | May 15, 2024 |
| Brittle cornea syndrome 1 | 3 | Dec 5, 2024 |
| Bronchiectasis with or without elevated sweat chloride 3 | 1 | Jul 22, 2021 |
| Brugada syndrome | 4 | Jul 6, 2022 |
| Brugada syndrome 1 | 5 | Dec 5, 2024 |
| Brugada syndrome 3 | 4 | May 1, 2023 |
| Brugada syndrome 8 | 3 | Nov 22, 2023 |
| Brunner syndrome | 2 | Dec 5, 2024 |
| Buratti-Harel syndrome | 1 | May 15, 2024 |
| CAP2-associated dilated cardiomyopathy | 1 | May 5, 2022 |
| CBL-related disorder | 5 | Dec 5, 2024 |
| CDC42BPB-related Neurodevelopmental disorder | 1 | Feb 24, 2022 |
| CDH4-associated disorder of corticaldevelopment | 1 | Jul 6, 2022 |
| CDK16-related Intellectual Disability | 1 | Dec 5, 2024 |
| CEBALID syndrome | 2 | Jul 6, 2022 |
| CEDNIK syndrome | 1 | Feb 5, 2021 |
| CELSR1-associated congenital heartdefects | 1 | Jul 6, 2022 |
| CFHR5 deficiency | 1 | Feb 17, 2022 |
| CHARGE syndrome | 11 | Dec 5, 2024 |
| CHD5-associated Neurodevelopmental disorder | 1 | Jul 6, 2022 |
| CHD5-related Neurodevelopmental disorder | 1 | Feb 24, 2022 |
| CHD8-associated Neurodevelopmental syndrome | 1 | Jul 6, 2022 |
| CK syndrome | 3 | Dec 5, 2024 |
| CLIP1-related intellectual disability | 3 | Dec 5, 2024 |
| CMIP-related neurodevelopmental disorder | 1 | Nov 22, 2023 |
| CNTN4-associated neurodevelopmental disorder | 1 | May 5, 2022 |
| CNTN5-related Neurodevelopmental disorder | 1 | Feb 24, 2022 |
| COACH syndrome 1 | 3 | Dec 5, 2024 |
| COACH syndrome 2 | 1 | May 5, 2022 |
| CODAS syndrome | 1 | Dec 5, 2024 |
| COG4-congenital disorder of glycosylation | 1 | Feb 17, 2022 |
| COG8-congenital disorder of glycosylation | 1 | May 17, 2021 |
| CSDE1-associated neurodevelopmental disorder | 1 | Jul 6, 2022 |
| CSMD3-associated Hirschsprung disease | 1 | Feb 24, 2022 |
| CTNND2-associated Neurodevelopmental syndrome | 2 | Aug 17, 2022 |
| Café-au-lait macules with pulmonary stenosis | 3 | Feb 24, 2022 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Dec 5, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 2 | Aug 17, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 10 | Aug 17, 2022 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 2 | Jul 6, 2022 |
| Cardiac valvular dysplasia, X-linked | 4 | Nov 22, 2023 |
| Cardiac, facial, and digital anomalies with developmental delay | 2 | Dec 5, 2024 |
| Cardiac-urogenital syndrome | 4 | May 15, 2024 |
| Cardiofaciocutaneous syndrome 1 | 1 | Aug 17, 2022 |
| Cardiofaciocutaneous syndrome 2 | 1 | May 17, 2021 |
| Cardiomyopathy, dilated, 2E | 1 | Nov 22, 2023 |
| Cardiomyopathy, dilated, 2c | 1 | May 5, 2022 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 3 | May 1, 2023 |
| Cardiomyopathy, familial hypertrophic 27 | 1 | Sep 15, 2023 |
| Cardiomyopathy, familial hypertrophic, 28 | 3 | Nov 22, 2023 |
| Cardiomyopathy, familial restrictive, 1 | 1 | Nov 22, 2023 |
| Cardiomyopathy, familial restrictive, 3 | 2 | Sep 15, 2023 |
| Cardiospondylocarpofacial syndrome | 1 | Dec 9, 2024 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | May 1, 2023 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 2 | May 15, 2024 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 | May 15, 2024 |
| Cataract 14 multiple types | 1 | May 5, 2022 |
| Cataract 21 multiple types | 1 | Sep 15, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 5 | Dec 5, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 3 | Nov 22, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 1 | Dec 5, 2022 |
| Central core myopathy | 3 | May 5, 2022 |
| Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 1 | Aug 17, 2022 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 5 | Dec 5, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2 | Jul 22, 2021 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Jul 6, 2022 |
| Cerebellar atrophy with seizures and variable developmental delay | 5 | Dec 5, 2024 |
| Cerebellar atrophy, developmental delay, and seizures | 8 | Dec 5, 2024 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 4 | Nov 22, 2023 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 11 | Dec 5, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 5 | Dec 5, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | May 5, 2022 |
| Cerebral cavernous malformation | 4 | Dec 9, 2024 |
| Cerebral cavernous malformation 2 | 1 | Jul 6, 2022 |
| Cerebro-costo-mandibular syndrome | 1 | May 15, 2024 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 3 | Aug 17, 2022 |
| Cernunnos-XLF deficiency | 1 | May 5, 2022 |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 | Dec 5, 2024 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Feb 24, 2022 |
| Char syndrome | 2 | May 1, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 6 | 1 | Aug 17, 2022 |
| Charcot-Marie-Tooth disease axonal type 2O | 4 | May 15, 2024 |
| Charcot-Marie-Tooth disease axonal type 2U | 1 | Nov 22, 2023 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | May 5, 2022 |
| Charcot-Marie-Tooth disease type 4C | 1 | Sep 15, 2023 |
| Charcot-Marie-Tooth disease type 4G | 1 | May 5, 2022 |
| Charcot-Marie-Tooth disease type 4J | 2 | Dec 5, 2024 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Sep 15, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 1 | Sep 15, 2023 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | Nov 22, 2023 |
| Charlevoix-Saguenay spastic ataxia | 2 | Jul 6, 2022 |
| Chilblain lupus 1 | 1 | Feb 5, 2021 |
| Chilblain lupus 2 | 1 | Jul 6, 2022 |
| Child syndrome | 2 | Dec 5, 2024 |
| Childhood apraxia of speech | 2 | Dec 5, 2024 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Aug 30, 2021 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | Dec 5, 2024 |
| Chitayat syndrome | 2 | Jul 6, 2022 |
| Cholestanol storage disease | 1 | May 5, 2022 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Dec 5, 2022 |
| Christianson syndrome | 2 | Jul 6, 2022 |
| Chromosomal instability with tissue-specific radiosensitivity | 1 | Dec 5, 2024 |
| Chromosome 15q11.2 deletion syndrome | 3 | May 15, 2024 |
| Chromosome 1p36 deletion syndrome | 1 | Mar 22, 2023 |
| Chromosome 1q21.1 duplication syndrome | 1 | May 5, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Nov 22, 2023 |
| Chromosome 3q29 microdeletion syndrome | 1 | May 5, 2022 |
| Chromosome Xq28 duplication syndrome | 1 | May 15, 2024 |
| Chédiak-Higashi syndrome | 4 | Dec 5, 2024 |
| Ciliary dyskinesia, primary, 37 | 1 | Nov 21, 2021 |
| Ciliary dyskinesia, primary, 40 | 2 | Nov 21, 2021 |
| Citrullinemia type I | 1 | Jul 6, 2022 |
| Clark-Baraitser syndrome | 7 | Dec 5, 2024 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 | Dec 5, 2024 |
| Classic homocystinuria | 1 | Feb 17, 2022 |
| Clubfoot | 1 | Aug 17, 2022 |
| Cobalamin C disease | 2 | Nov 22, 2023 |
| Coffin-Lowry syndrome | 1 | Aug 17, 2022 |
| Coffin-Siris syndrome 1 | 14 | Dec 5, 2024 |
| Coffin-Siris syndrome 10 | 3 | Feb 17, 2022 |
| Coffin-Siris syndrome 11 | 1 | Feb 24, 2022 |
| Coffin-Siris syndrome 12 | 3 | Aug 17, 2022 |
| Coffin-Siris syndrome 5 | 2 | Jul 6, 2022 |
| Coffin-Siris syndrome 6 | 3 | Dec 5, 2024 |
| Coffin-Siris syndrome 7 | 1 | Aug 30, 2021 |
| Coffin-Siris syndrome 8 | 9 | Aug 17, 2022 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 7 | Dec 5, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 6 | Dec 5, 2024 |
| Cohen syndrome | 44 | Sep 15, 2023 |
| Colorectal cancer, susceptibility to, 12 | 1 | May 5, 2022 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Dec 5, 2024 |
| Combined immunodeficiency due to CD3gamma deficiency | 1 | Jul 22, 2021 |
| Combined immunodeficiency due to DOCK8 deficiency | 3 | Feb 24, 2022 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Feb 17, 2022 |
| Combined immunodeficiency due to MALT1 deficiency | 2 | Feb 24, 2022 |
| Combined immunodeficiency due to ORAI1 deficiency | 1 | Jul 6, 2022 |
| Combined immunodeficiency due to STIM1 deficiency | 4 | Feb 5, 2021 |
| Combined immunodeficiency due to partial RAG1 deficiency | 2 | May 5, 2022 |
| Combined immunodeficiency with skin granulomas | 2 | May 5, 2022 |
| Combined oxidative phosphorylation defect type 11 | 1 | May 5, 2022 |
| Combined oxidative phosphorylation defect type 20 | 2 | May 5, 2022 |
| Combined oxidative phosphorylation defect type 23 | 2 | Dec 5, 2024 |
| Combined oxidative phosphorylation defect type 24 | 1 | Feb 17, 2022 |
| Combined oxidative phosphorylation defect type 27 | 1 | Feb 17, 2022 |
| Combined oxidative phosphorylation deficiency 36 | 3 | Dec 5, 2024 |
| Complement component 5 deficiency | 1 | Feb 24, 2022 |
| Complement component 6 deficiency | 1 | Feb 5, 2021 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Feb 17, 2022 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Dec 5, 2024 |
| Complex cortical dysplasia with other brain malformations 7 | 2 | May 15, 2024 |
| Complex neurodevelopmental disorder | 1 | Feb 17, 2022 |
| Congenital Pulmonary Airway Malformations | 1 | May 15, 2024 |
| Congenital bile acid synthesis defect 1 | 1 | Feb 24, 2022 |
| Congenital bile acid synthesis defect 4 | 1 | Dec 5, 2024 |
| Congenital bile acid synthesis defect 6 | 1 | Nov 21, 2021 |
| Congenital cerebellar hypoplasia | 1 | Feb 5, 2021 |
| Congenital contractural arachnodactyly | 1 | Sep 15, 2023 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 5 | Dec 5, 2024 |
| Congenital diarrhea 6 | 2 | Jul 6, 2022 |
| Congenital diarrhea 7 with exudative enteropathy | 1 | Jul 6, 2022 |
| Congenital disorder of deglycosylation | 1 | Nov 21, 2021 |
| Congenital disorder of glycosylation, type ICC | 1 | Feb 5, 2021 |
| Congenital disorder of glycosylation, type IIq | 1 | Feb 5, 2021 |
| Congenital disorder of glycosylation, type iit | 1 | Dec 5, 2022 |
| Congenital generalized lipodystrophy type 1 | 8 | May 1, 2023 |
| Congenital generalized lipodystrophy type 2 | 3 | Dec 5, 2022 |
| Congenital heart defects and ectodermal dysplasia | 2 | Aug 17, 2022 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 5 | Dec 5, 2024 |
| Congenital heart defects, multiple types, 7 | 2 | May 15, 2024 |
| Congenital heart disease | 4 | Jul 6, 2022 |
| Congenital hyperammonemia, type I | 2 | Feb 24, 2022 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2 | Jul 6, 2022 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 4 | Dec 5, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 4 | Sep 15, 2023 |
| Congenital myasthenic syndrome 10 | 2 | May 5, 2022 |
| Congenital myasthenic syndrome 12 | 1 | May 5, 2022 |
| Congenital myasthenic syndrome 2A | 1 | Feb 24, 2022 |
| Congenital myasthenic syndrome 2C | 1 | Feb 24, 2022 |
| Congenital myasthenic syndrome 3B | 1 | May 5, 2022 |
| Congenital myasthenic syndrome 4A | 2 | Feb 17, 2022 |
| Congenital myasthenic syndrome 4B | 2 | Feb 17, 2022 |
| Congenital myasthenic syndrome 4C | 2 | Feb 17, 2022 |
| Congenital myopathy 20 | 1 | Dec 5, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | May 5, 2022 |
| Congenital myotonia, autosomal recessive form | 2 | May 5, 2022 |
| Congenital secretory sodium diarrhea 8 | 1 | Aug 30, 2021 |
| Congenital stromal corneal dystrophy | 1 | May 5, 2022 |
| Congenital syndromic hypopituitarism | 1 | May 1, 2023 |
| Conotruncal heart malformations | 3 | Dec 5, 2024 |
| Corneal dystrophy, lattice type 3A | 1 | May 5, 2022 |
| Cornelia de Lange syndrome 1 | 9 | Dec 5, 2024 |
| Cornelia de Lange syndrome 3 | 2 | Jul 6, 2022 |
| Cornelia de Lange syndrome 4 | 1 | Feb 17, 2022 |
| Cornelia de Lange syndrome 5 | 1 | May 5, 2022 |
| Cornelia de Lange syndrome 6 | 1 | Dec 5, 2024 |
| Cornelia de Lange-like syndrome | 1 | Feb 17, 2022 |
| Coronary artery disease, autosomal dominant 2 | 1 | Dec 5, 2022 |
| Cortical dysplasia, complex, with other brain malformations 10 | 3 | Dec 5, 2024 |
| Cortical dysplasia-focal epilepsy syndrome | 9 | Dec 5, 2024 |
| Costello syndrome | 1 | Nov 22, 2023 |
| Cowden syndrome 5 | 1 | Feb 5, 2021 |
| Craniofacial dysplasia - osteopenia syndrome | 1 | Jul 6, 2022 |
| Craniofacial-deafness-hand syndrome | 1 | Jul 6, 2022 |
| Craniosynostosis 4 | 2 | Jul 6, 2022 |
| Creatine transporter deficiency | 1 | May 5, 2022 |
| Cutis laxa with osteodystrophy | 1 | May 17, 2021 |
| Cutis laxa, X-linked | 1 | Nov 22, 2023 |
| Cutis laxa, autosomal dominant 3 | 2 | May 5, 2022 |
| Cystic fibrosis | 2 | May 15, 2024 |
| Cystic leukoencephalopathy without megalencephaly | 1 | May 17, 2021 |
| D-2-hydroxyglutaric aciduria 1 | 2 | Dec 5, 2024 |
| DDX23-related Neurodevelopmental disorder | 1 | Aug 17, 2022 |
| DDX54-related Neurodevelopment Syndrome | 1 | Dec 5, 2024 |
| DDX54-related Neurodevelopmental Disorder | 1 | Dec 5, 2024 |
| DHX34-related Neurodevelopmental Disorder | 1 | Dec 5, 2024 |
| DHX58-associated Neurodevelopmental disorder | 1 | Aug 17, 2022 |
| DISP1-related Holoprosencephaly | 1 | Nov 21, 2021 |
| DNA ligase IV deficiency | 1 | Feb 24, 2022 |
| DNAH14-Associated Neurodevelopmental Disorder | 2 | Aug 17, 2022 |
| DNHD1-related Intellectual Disability | 2 | Dec 5, 2024 |
| DNHD1-related Neurodevelopmental Disorder | 2 | Feb 24, 2022 |
| DOORS syndrome | 2 | Jul 6, 2022 |
| DRD2-associated Dystonia | 1 | Jul 6, 2022 |
| DYRK1A-related intellectual disability syndrome | 2 | Dec 5, 2024 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 3 | Aug 17, 2022 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Sep 15, 2023 |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 | Jul 6, 2022 |
| Deeah syndrome | 2 | Aug 17, 2022 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 3 | Dec 5, 2024 |
| Deficiency of alpha-mannosidase | 1 | Feb 24, 2022 |
| Deficiency of beta-ureidopropionase | 3 | Dec 5, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Jul 6, 2022 |
| Deficiency of guanidinoacetate methyltransferase | 2 | Dec 5, 2024 |
| Deficiency of malonyl-CoA decarboxylase | 2 | Jul 22, 2021 |
| Deficiency of phosphoserine phosphatase | 1 | Dec 5, 2024 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | May 15, 2024 |
| Deletion of short arm of chromosome 18 | 1 | Mar 22, 2023 |
| Delpire-McNeill syndrome | 3 | May 5, 2022 |
| Desmin-related myofibrillar myopathy | 2 | May 5, 2022 |
| Desmosterolosis | 1 | Jul 22, 2021 |
| Developmental and epileptic encephalopathy 112 | 1 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy 6B | 4 | Nov 22, 2023 |
| Developmental and epileptic encephalopathy 91 | 2 | Feb 24, 2022 |
| Developmental and epileptic encephalopathy 92 | 2 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy 93 | 4 | May 5, 2022 |
| Developmental and epileptic encephalopathy 94 | 7 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 11 | 7 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 12 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 13 | 10 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 14 | 12 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 15 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 16 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 17 | 3 | Jul 6, 2022 |
| Developmental and epileptic encephalopathy, 18 | 22 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 19 | 5 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 2 | 2 | Nov 21, 2021 |
| Developmental and epileptic encephalopathy, 21 | 1 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 23 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 24 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 25 | 1 | Feb 5, 2021 |
| Developmental and epileptic encephalopathy, 26 | 7 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 27 | 8 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 28 | 4 | Feb 17, 2022 |
| Developmental and epileptic encephalopathy, 30 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 31A | 2 | Feb 24, 2022 |
| Developmental and epileptic encephalopathy, 32 | 2 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 33 | 2 | May 5, 2022 |
| Developmental and epileptic encephalopathy, 34 | 6 | Jul 6, 2022 |
| Developmental and epileptic encephalopathy, 35 | 1 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 37 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 39 | 2 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 4 | 4 | May 5, 2022 |
| Developmental and epileptic encephalopathy, 40 | 1 | Feb 17, 2022 |
| Developmental and epileptic encephalopathy, 41 | 1 | May 5, 2022 |
| Developmental and epileptic encephalopathy, 42 | 16 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 43 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 44 | 1 | Nov 22, 2023 |
| Developmental and epileptic encephalopathy, 45 | 1 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 46 | 8 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 47 | 4 | Jul 6, 2022 |
| Developmental and epileptic encephalopathy, 48 | 5 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 49 | 4 | Dec 9, 2024 |
| Developmental and epileptic encephalopathy, 5 | 5 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 50 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 51 | 1 | May 17, 2021 |
| Developmental and epileptic encephalopathy, 53 | 1 | Feb 17, 2022 |
| Developmental and epileptic encephalopathy, 54 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 56 | 1 | Jul 6, 2022 |
| Developmental and epileptic encephalopathy, 57 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 58 | 4 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 59 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 61 | 1 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 62 | 6 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 64 | 7 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 66 | 6 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 67 | 6 | Jul 6, 2022 |
| Developmental and epileptic encephalopathy, 69 | 14 | Aug 17, 2022 |
| Developmental and epileptic encephalopathy, 7 | 7 | Aug 17, 2022 |
| Developmental and epileptic encephalopathy, 70 | 9 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 71 | 1 | Feb 24, 2022 |
| Developmental and epileptic encephalopathy, 72 | 2 | Aug 17, 2022 |
| Developmental and epileptic encephalopathy, 73 | 2 | Aug 30, 2021 |
| Developmental and epileptic encephalopathy, 74 | 2 | Feb 17, 2022 |
| Developmental and epileptic encephalopathy, 76 | 3 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 77 | 1 | Jul 22, 2021 |
| Developmental and epileptic encephalopathy, 78 | 2 | Feb 24, 2022 |
| Developmental and epileptic encephalopathy, 79 | 1 | Dec 9, 2024 |
| Developmental and epileptic encephalopathy, 8 | 2 | Dec 5, 2024 |
| Developmental and epileptic encephalopathy, 80 | 1 | May 17, 2021 |
| Developmental and epileptic encephalopathy, 81 | 2 | Feb 24, 2022 |
| Developmental and epileptic encephalopathy, 86 | 1 | Feb 24, 2022 |
| Developmental and epileptic encephalopathy, 87 | 1 | Jul 6, 2022 |
| Developmental and epileptic encephalopathy, 9 | 5 | Aug 17, 2022 |
| Developmental delay and seizures with or without movement abnormalities | 2 | Dec 5, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 5 | Jul 6, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 5 | Dec 5, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 10 | Dec 5, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 2 | Aug 17, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Nov 22, 2023 |
| Developmental disorder | 1 | Feb 24, 2022 |
| DiGeorge syndrome | 4 | Dec 5, 2024 |
| Diabetes mellitus type 1 | 7 | Sep 15, 2023 |
| Diabetes mellitus, ketosis-prone | 2 | Sep 15, 2023 |
| Diabetes mellitus, permanent neonatal 3 | 4 | Nov 22, 2023 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Dec 5, 2022 |
| Diabetes mellitus, transient neonatal, 1 | 1 | Nov 22, 2023 |
| Diaphragmatic hernia 3 | 1 | May 15, 2024 |
| Dias-Logan syndrome | 2 | Jul 6, 2022 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | Feb 5, 2021 |
| Diets-Jongmans syndrome | 2 | Dec 5, 2024 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 5 | Dec 5, 2024 |
| Dihydropyrimidinase deficiency | 1 | Aug 17, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | May 17, 2021 |
| Dilated cardiomyopathy 1A | 6 | May 1, 2023 |
| Dilated cardiomyopathy 1AA | 1 | Dec 5, 2024 |
| Dilated cardiomyopathy 1BB | 2 | May 1, 2023 |
| Dilated cardiomyopathy 1C | 3 | Nov 22, 2023 |
| Dilated cardiomyopathy 1D | 5 | Dec 5, 2024 |
| Dilated cardiomyopathy 1E | 4 | Sep 15, 2023 |
| Dilated cardiomyopathy 1EE | 3 | Nov 22, 2023 |
| Dilated cardiomyopathy 1FF | 1 | Nov 22, 2023 |
| Dilated cardiomyopathy 1G | 95 | Dec 5, 2024 |
| Dilated cardiomyopathy 1HH | 2 | Dec 5, 2022 |
| Dilated cardiomyopathy 1I | 4 | Sep 15, 2023 |
| Dilated cardiomyopathy 1J | 1 | Sep 15, 2023 |
| Dilated cardiomyopathy 1KK | 2 | Nov 22, 2023 |
| Dilated cardiomyopathy 1L | 1 | Sep 15, 2023 |
| Dilated cardiomyopathy 1P | 2 | Dec 5, 2022 |
| Dilated cardiomyopathy 1S | 8 | Dec 5, 2024 |
| Dilated cardiomyopathy 1W | 6 | Sep 15, 2023 |
| Dilated cardiomyopathy 1X | 1 | Sep 15, 2023 |
| Dilated cardiomyopathy 1Y | 4 | Dec 5, 2024 |
| Dilated cardiomyopathy 1Z | 1 | Dec 5, 2024 |
| Dilated cardiomyopathy 2B | 1 | Dec 5, 2022 |
| Dilated cardiomyopathy 3B | 2 | May 5, 2022 |
| Distal 16p11.2 microdeletion syndrome | 1 | May 5, 2022 |
| Distal 7q11.23 microdeletion syndrome | 1 | Feb 24, 2022 |
| Distichiasis-lymphedema syndrome | 1 | May 15, 2024 |
| Donnai-Barrow syndrome | 17 | Dec 5, 2024 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Feb 17, 2022 |
| Duchenne muscular dystrophy | 1 | May 5, 2022 |
| Dworschak-Punetha neurodevelopmental syndrome | 3 | Dec 5, 2024 |
| Dyggve-Melchior-Clausen syndrome | 1 | Aug 30, 2021 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Sep 15, 2023 |
| Dyskeratosis congenita, autosomal recessive 5 | 3 | Sep 15, 2023 |
| Dyskeratosis congenita, autosomal recessive 6 | 1 | May 15, 2024 |
| Dystonia 12 | 1 | Jul 6, 2022 |
| Dystonia 24 | 2 | Sep 15, 2023 |
| Dystonia 28, childhood-onset | 7 | Jul 6, 2022 |
| Dystonia 5 | 1 | Dec 5, 2024 |
| EAST syndrome | 3 | Dec 5, 2024 |
| EEF1D-associated Neurodevelopmental Syndrome | 1 | May 5, 2022 |
| EEF2-related Neurodevelopmental disorder | 1 | Aug 17, 2022 |
| EIF4A2-related Neurodevelopmental Syndrome | 1 | Nov 22, 2023 |
| ERBB4-associated epilepsy syndrome | 1 | Aug 17, 2022 |
| ERBB4-related Non-syndromic intellectual disability or epilepsy | 1 | Feb 24, 2022 |
| EXOC3L2-related brain malformations and/or renal disease | 1 | May 15, 2024 |
| Early-onset Lafora body disease | 1 | Dec 5, 2024 |
| Early-onset myopathy with fatal cardiomyopathy | 6 | Dec 5, 2024 |
| Early-onset parkinsonism-intellectual disability syndrome | 1 | Feb 24, 2022 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | Feb 24, 2022 |
| Ectodermal dysplasia and immunodeficiency 1 | 1 | Feb 24, 2022 |
| Ectopia lentis 1, isolated, autosomal dominant | 1 | Feb 24, 2022 |
| Ehlers-Danlos syndrome, classic type, 1 | 2 | Dec 5, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 2 | May 15, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Nov 22, 2023 |
| Ehlers-Danlos syndrome, type 4 | 1 | May 1, 2023 |
| Elliptocytosis 2 | 1 | Jul 22, 2021 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Dec 5, 2024 |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 4 | Dec 5, 2024 |
| Encephalopathy due to GLUT1 deficiency | 1 | Feb 5, 2021 |
| Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 1 | Feb 24, 2022 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2 | Nov 22, 2023 |
| Epilepsy, childhood absence 2 | 1 | May 17, 2021 |
| Epilepsy, childhood absence, susceptibility to, 5 | 2 | Aug 17, 2022 |
| Epilepsy, childhood absence, susceptibility to, 6 | 18 | Dec 5, 2024 |
| Epilepsy, early-onset | 1 | Jul 6, 2022 |
| Epilepsy, early-onset, vitamin B6-dependent | 3 | Jul 6, 2022 |
| Epilepsy, early-onset, with or without developmental delay | 12 | Dec 5, 2024 |
| Epilepsy, familial adult myoclonic, 1 | 1 | Jul 6, 2022 |
| Epilepsy, familial adult myoclonic, 2 | 4 | Dec 5, 2024 |
| Epilepsy, familial adult myoclonic, 3 | 1 | Jul 6, 2022 |
| Epilepsy, familial adult myoclonic, 4 | 3 | Nov 22, 2023 |
| Epilepsy, familial adult myoclonic, 5 | 3 | Dec 5, 2024 |
| Epilepsy, familial adult myoclonic, 6 | 2 | Aug 17, 2022 |
| Epilepsy, familial adult myoclonic, 7 | 1 | Feb 5, 2021 |
| Epilepsy, familial focal, with variable foci 1 | 11 | Dec 5, 2024 |
| Epilepsy, familial focal, with variable foci 2 | 2 | Jul 6, 2022 |
| Epilepsy, familial focal, with variable foci 3 | 7 | Dec 5, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 7 | Dec 5, 2024 |
| Epilepsy, familial temporal lobe, 1 | 2 | Jul 6, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 5 | Dec 5, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Feb 24, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Nov 21, 2021 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 5 | Jul 6, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 2 | Dec 5, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 6 | Dec 5, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 1 | Dec 5, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 1 | Nov 22, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 1 | Feb 24, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 2 | Feb 24, 2022 |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 3 | Dec 5, 2024 |
| Epilepsy, progressive myoclonic, 11 | 2 | Dec 5, 2024 |
| Epilepsy, progressive myoclonic, 1B | 6 | Dec 5, 2024 |
| Episodic ataxia type 2 | 3 | Sep 15, 2023 |
| Episodic ataxia type 6 | 3 | Dec 5, 2024 |
| Episodic ataxia, type 9 | 1 | Jul 6, 2022 |
| Episodic kinesigenic dyskinesia 1 | 1 | Feb 24, 2022 |
| Episodic pain syndrome, familial, 2 | 1 | Dec 5, 2024 |
| Epithelial basement membrane dystrophy | 1 | May 5, 2022 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Feb 24, 2022 |
| FBRSL1-associated neurodevelopmental syndrome | 1 | May 5, 2022 |
| FBXO28-associated epileptic encephalopathy | 1 | May 5, 2022 |
| FG syndrome 1 | 1 | Jul 6, 2022 |
| FRAXE | 1 | May 5, 2022 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2 | Dec 5, 2024 |
| Familial Mediterranean fever, autosomal dominant | 1 | May 17, 2021 |
| Familial acute necrotizing encephalopathy | 3 | Feb 24, 2022 |
| Familial adenomatous polyposis 1 | 2 | Nov 22, 2023 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Feb 24, 2022 |
| Familial apolipoprotein C-II deficiency | 3 | May 1, 2023 |
| Familial cancer of breast | 3 | May 15, 2024 |
| Familial cold autoinflammatory syndrome 1 | 1 | Feb 24, 2022 |
| Familial cold autoinflammatory syndrome 2 | 2 | Feb 24, 2022 |
| Familial cold autoinflammatory syndrome 3 | 1 | Feb 5, 2021 |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 | Aug 30, 2021 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Aug 17, 2022 |
| Familial hemophagocytic lymphohistiocytosis 3 | 2 | Feb 17, 2022 |
| Familial hyperthyroidism due to mutations in TSH receptor | 1 | Dec 5, 2024 |
| Familial hypobetalipoproteinemia 1 | 56 | Nov 22, 2023 |
| Familial hypobetalipoproteinemia 2 | 4 | Sep 15, 2023 |
| Familial hypokalemia-hypomagnesemia | 1 | Feb 17, 2022 |
| Familial infantile myoclonic epilepsy | 2 | Jul 6, 2022 |
| Familial medullary thyroid carcinoma | 1 | Aug 30, 2021 |
| Familial partial lipodystrophy, Dunnigan type | 7 | Nov 22, 2023 |
| Familial renal glucosuria | 10 | Sep 15, 2023 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | May 5, 2022 |
| Familial temporal lobe epilepsy 5 | 9 | Dec 5, 2024 |
| Familial temporal lobe epilepsy 7 | 15 | Dec 5, 2024 |
| Familial temporal lobe epilepsy 8 | 2 | Dec 5, 2024 |
| Familial type 3 hyperlipoproteinemia | 4 | May 1, 2023 |
| Familial type 5 hyperlipoproteinemia | 2 | May 1, 2023 |
| Familial visceral amyloidosis, Ostertag type | 1 | Dec 5, 2022 |
| Fanconi anemia complementation group C | 2 | May 15, 2024 |
| Fanconi anemia complementation group D2 | 1 | Feb 17, 2022 |
| Fanconi anemia complementation group P | 2 | Jul 6, 2022 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2 | Sep 15, 2023 |
| Fanconi-Bickel syndrome | 2 | May 1, 2023 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | Feb 24, 2022 |
| Febrile seizures, familial, 11 | 8 | Dec 5, 2024 |
| Febrile seizures, familial, 4 | 13 | Dec 5, 2024 |
| Fibrous dysplasia of jaw | 1 | Jul 6, 2022 |
| Finnish type amyloidosis | 1 | Nov 22, 2023 |
| Fish-eye disease | 4 | May 1, 2023 |
| Floating-Harbor syndrome | 6 | Dec 5, 2024 |
| Focal segmental glomerulosclerosis 9 | 1 | May 5, 2022 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 1 | Dec 5, 2024 |
| Fragile X syndrome | 1 | Aug 17, 2022 |
| Fraser syndrome 3 | 1 | Dec 5, 2024 |
| Freeman-Sheldon syndrome | 2 | Dec 5, 2024 |
| Frontometaphyseal dysplasia 2 | 1 | Dec 9, 2024 |
| Fumarase deficiency | 1 | May 5, 2022 |
| GABRA4-related Epileptic and Neurodevelopmental Disorder | 1 | May 1, 2023 |
| GABRE-related epilepsy | 1 | Aug 17, 2022 |
| GIGYF1-associated neurodevelopmental disorder | 1 | Feb 24, 2022 |
| GM3 synthase deficiency | 1 | Dec 5, 2024 |
| GNAI1 associated Neurodevelopmental disorder | 1 | Aug 17, 2022 |
| Gabriele de Vries syndrome | 2 | Feb 17, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jul 22, 2021 |
| Gallbladder disease 4 | 1 | May 1, 2023 |
| Galloway-Mowat syndrome 2, X-linked | 2 | Nov 22, 2023 |
| Galloway-Mowat syndrome 8 | 2 | Dec 5, 2024 |
| Geleophysic dysplasia 2 | 1 | Feb 24, 2022 |
| Geleophysic dysplasia 3 | 1 | Nov 22, 2023 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Aug 30, 2021 |
| Generalized epilepsy with febrile seizures plus, type 10 | 5 | Dec 5, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 9 | Dec 5, 2024 |
| Generalized epilepsy with febrile seizures plus, type 7 | 7 | Dec 9, 2024 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | Aug 17, 2022 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 9 | Dec 5, 2024 |
| Genitopatellar syndrome | 5 | Dec 5, 2024 |
| Ghosal hematodiaphyseal dysplasia | 2 | Jul 22, 2021 |
| Gillespie syndrome | 1 | May 1, 2023 |
| Glaucoma 3, primary congenital, E | 1 | May 15, 2024 |
| Global developmental delay with or without impaired intellectual development | 5 | Aug 17, 2022 |
| Global developmental delay with speech and behavioral abnormalities | 4 | Aug 17, 2022 |
| Glucocorticoid deficiency 5 | 1 | Dec 5, 2024 |
| Glycine encephalopathy | 4 | Feb 24, 2022 |
| Glycine encephalopathy 1 | 1 | Dec 5, 2024 |
| Glycogen storage disease IXb | 1 | Feb 24, 2022 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 | May 5, 2022 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 1 | May 15, 2024 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | May 17, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Feb 5, 2021 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 1 | Jul 6, 2022 |
| Gordon syndrome | 3 | Dec 5, 2024 |
| Gorlin syndrome | 3 | May 5, 2022 |
| Grange syndrome | 1 | May 17, 2021 |
| Granulomatous disease, chronic, X-linked | 1 | Sep 15, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Nov 21, 2021 |
| Gray platelet syndrome | 1 | May 5, 2022 |
| Greenberg dysplasia | 2 | Nov 22, 2023 |
| Greig cephalopolysyndactyly syndrome | 4 | Dec 5, 2024 |
| Groenouw corneal dystrophy type I | 1 | May 5, 2022 |
| Growth delay due to insulin-like growth factor I resistance | 1 | Dec 5, 2024 |
| Growth delay due to insulin-like growth factor type 1 deficiency | 1 | Dec 5, 2022 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 3 | Jul 22, 2021 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Dec 5, 2024 |
| H syndrome | 1 | May 5, 2022 |
| HCN2-associated Epilepsy syndrome | 1 | May 5, 2022 |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 | 1 | May 1, 2023 |
| HMGB1-related Developmental delay and microcephaly | 1 | Aug 17, 2022 |
| HSD10 mitochondrial disease | 1 | Feb 5, 2021 |
| Hao-Fountain syndrome | 6 | Aug 17, 2022 |
| Harel-Yoon syndrome | 7 | May 15, 2024 |
| Hb SS disease | 2 | Dec 9, 2024 |
| Hearing loss, autosomal dominant 37 | 2 | May 5, 2022 |
| Hearing loss, autosomal recessive 112 | 2 | Jul 6, 2022 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 3 | May 1, 2023 |
| Hemochromatosis type 1 | 2 | Nov 22, 2023 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 | Jul 22, 2021 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Feb 17, 2022 |
| Hereditary factor VIII deficiency disease | 1 | May 15, 2024 |
| Hereditary factor XI deficiency disease | 1 | Dec 5, 2024 |
| Hereditary fructosuria | 1 | Nov 21, 2021 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | May 5, 2022 |
| Hereditary spastic paraplegia 17 | 2 | Nov 22, 2023 |
| Hereditary spastic paraplegia 30 | 2 | Aug 17, 2022 |
| Hereditary spastic paraplegia 39 | 2 | May 5, 2022 |
| Hereditary spastic paraplegia 4 | 1 | May 17, 2021 |
| Hereditary spastic paraplegia 50 | 1 | Dec 5, 2024 |
| Hereditary spastic paraplegia 7 | 1 | Feb 24, 2022 |
| Hereditary spastic paraplegia 75 | 1 | Feb 17, 2022 |
| Hereditary spastic paraplegia 9A | 1 | May 5, 2022 |
| Hermansky-Pudlak syndrome 9 | 1 | Feb 24, 2022 |
| Heterotopia, periventricular, X-linked dominant | 4 | Feb 17, 2022 |
| High density lipoprotein cholesterol level quantitative trait locus 12 | 8 | Sep 15, 2023 |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 1 | Feb 24, 2022 |
| Histiocytic medullary reticulosis | 2 | May 5, 2022 |
| Hogue-Janssens syndrome 1 | 4 | Aug 17, 2022 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 3 | Dec 5, 2024 |
| Holoprosencephaly 13, X-linked | 1 | Sep 15, 2023 |
| Holoprosencephaly 2 | 1 | May 5, 2022 |
| Holoprosencephaly 4 | 2 | Dec 5, 2024 |
| Holoprosencephaly 5 | 1 | Feb 17, 2022 |
| Holoprosencephaly 7 | 4 | May 5, 2022 |
| Holoprosencephaly 9 | 8 | Dec 5, 2024 |
| Holoprosencephaly sequence | 1 | Feb 24, 2022 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 | Jul 6, 2022 |
| Houge-Janssens syndrome 2 | 1 | Dec 5, 2024 |
| Houge-Janssens syndrome 3 | 2 | Jul 6, 2022 |
| Hydrocephalus, congenital communicating, 1 | 3 | Jul 6, 2022 |
| Hydrocephalus, congenital, 3, with brain anomalies | 5 | Dec 5, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 3 | Aug 17, 2022 |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 1 | Jul 22, 2021 |
| Hyper-IgM syndrome type 2 | 2 | Feb 17, 2022 |
| Hypercholesterolemia, autosomal dominant, 3 | 9 | May 1, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 57 | May 15, 2024 |
| Hypercholesterolemia, familial, 1 | 23 | Dec 5, 2024 |
| Hypercholesterolemia, familial, 4 | 1 | May 1, 2023 |
| Hyperekplexia 1 | 3 | Dec 5, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 23 | Mar 8, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 1 | May 1, 2023 |
| Hyperinsulinism due to glucokinase deficiency | 5 | Sep 15, 2023 |
| Hyperinsulinism-hyperammonemia syndrome | 3 | Jul 6, 2022 |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 9 | Sep 15, 2023 |
| Hyperlipidemia, familial combined, LPL related | 6 | May 1, 2023 |
| Hyperlipoproteinemia, type 1D | 4 | Sep 15, 2023 |
| Hyperlipoproteinemia, type I | 5 | May 1, 2023 |
| Hyperlysinemia | 1 | May 17, 2021 |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 | Jul 6, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Feb 17, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 4 | Aug 17, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Feb 17, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 | May 5, 2022 |
| Hyperproinsulinemia | 2 | Dec 5, 2022 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Feb 17, 2022 |
| Hypertriglyceridemia 1 | 2 | May 1, 2023 |
| Hypertrophic cardiomyopathy 1 | 5 | Nov 22, 2023 |
| Hypertrophic cardiomyopathy 13 | 1 | Dec 5, 2024 |
| Hypertrophic cardiomyopathy 14 | 4 | Dec 5, 2024 |
| Hypertrophic cardiomyopathy 15 | 6 | Sep 15, 2023 |
| Hypertrophic cardiomyopathy 17 | 1 | Nov 22, 2023 |
| Hypertrophic cardiomyopathy 18 | 1 | Dec 5, 2022 |
| Hypertrophic cardiomyopathy 2 | 3 | Sep 15, 2023 |
| Hypertrophic cardiomyopathy 25 | 1 | Sep 15, 2023 |
| Hypertrophic cardiomyopathy 26 | 6 | Nov 22, 2023 |
| Hypertrophic cardiomyopathy 3 | 2 | Nov 22, 2023 |
| Hypertrophic cardiomyopathy 4 | 8 | May 1, 2023 |
| Hypertrophic cardiomyopathy 6 | 2 | Nov 22, 2023 |
| Hypertrophic cardiomyopathy 7 | 2 | Nov 22, 2023 |
| Hypertrophic cardiomyopathy 8 | 1 | Dec 5, 2022 |
| Hypertrophic cardiomyopathy 9 | 96 | Dec 5, 2024 |
| Hyperuricemic nephropathy, familial juvenile type 4 | 2 | Feb 17, 2022 |
| Hypoalphalipoproteinemia, primary, 1 | 21 | Nov 22, 2023 |
| Hypoalphalipoproteinemia, primary, 2 | 1 | Dec 5, 2022 |
| Hypogonadotropic hypogonadism | 2 | Feb 17, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Dec 5, 2024 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 3 | May 24, 2023 |
| Hypoinsulinemic hypoglycemia and body hemihypertrophy | 2 | Nov 22, 2023 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 3 | Aug 17, 2022 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 1 | Nov 22, 2023 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 | Sep 15, 2023 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 2 | Jul 6, 2022 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 2 | Feb 17, 2022 |
| Hypoplastic left heart syndrome 2 | 2 | Dec 5, 2024 |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 3 | May 1, 2023 |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 | Sep 15, 2023 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jul 22, 2021 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 | Jul 6, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 8 | Feb 24, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 4 | Jul 6, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Aug 17, 2022 |
| IGDCC4-related developmental disorder | 1 | Feb 24, 2022 |
| ILK-related cardiomyopathy | 1 | Nov 22, 2023 |
| IMAGe syndrome | 1 | Jul 6, 2022 |
| Ichthyosis vulgaris | 3 | Feb 17, 2022 |
| Idiopathic basal ganglia calcification 1 | 2 | Nov 21, 2021 |
| Imagawa-Matsumoto syndrome | 2 | Dec 5, 2024 |
| Imerslund-Grasbeck syndrome type 1 | 4 | Aug 17, 2022 |
| Immunodeficiency 11b with atopic dermatitis | 1 | Nov 21, 2021 |
| Immunodeficiency 14 | 1 | May 5, 2022 |
| Immunodeficiency 23 | 2 | Feb 24, 2022 |
| Immunodeficiency 31B | 1 | Dec 5, 2024 |
| Immunodeficiency 33 | 1 | Feb 24, 2022 |
| Immunodeficiency 35 | 1 | Jul 22, 2021 |
| Immunodeficiency 36 | 2 | Jul 6, 2022 |
| Immunodeficiency 45 | 1 | Aug 17, 2022 |
| Immunodeficiency 51 | 2 | Jul 6, 2022 |
| Immunodeficiency 64 | 4 | May 1, 2023 |
| Immunodeficiency 70 | 1 | Nov 22, 2023 |
| Immunodeficiency 75 | 2 | Sep 15, 2023 |
| Immunodeficiency and Autoimmune Enterocolopathy | 1 | Jul 6, 2022 |
| Immunodeficiency due to CD25 deficiency | 1 | Jul 6, 2022 |
| Immunodeficiency due to MASP-2 deficiency | 2 | Jul 6, 2022 |
| Immunodeficiency, common variable, 12 | 1 | Feb 24, 2022 |
| Immunodeficiency, common variable, 2 | 3 | Jul 6, 2022 |
| Immunodeficiency, common variable, 7 | 2 | Feb 24, 2022 |
| Immunoglobulin A deficiency 2 | 1 | Feb 17, 2022 |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities | 1 | Feb 5, 2021 |
| Inborn glycerol kinase deficiency | 1 | May 5, 2022 |
| Infantile convulsions and choreoathetosis | 1 | Feb 24, 2022 |
| Infantile liver failure syndrome 2 | 1 | Nov 22, 2023 |
| Infantile neuroaxonal dystrophy | 2 | Feb 24, 2022 |
| Infantile onset spinocerebellar ataxia | 2 | Feb 24, 2022 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | Aug 30, 2021 |
| Inflammatory bowel disease 1 | 1 | Feb 24, 2022 |
| Inflammatory bowel disease 29 | 1 | Jul 6, 2022 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 | Nov 21, 2021 |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 | May 17, 2021 |
| Inherited obesity | 9 | Nov 22, 2023 |
| Inherited prekallikrein deficiency | 1 | Jul 6, 2022 |
| Inherited susceptibility to asthma | 2 | May 1, 2023 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | May 1, 2023 |
| Intellectual developmental disorder 59 | 1 | Aug 30, 2021 |
| Intellectual developmental disorder 60 with seizures | 1 | Dec 5, 2024 |
| Intellectual developmental disorder 61 | 7 | Dec 5, 2024 |
| Intellectual developmental disorder 62 | 3 | Jul 6, 2022 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Jul 22, 2021 |
| Intellectual developmental disorder with autism and macrocephaly | 5 | Dec 5, 2024 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 7 | Dec 5, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 5 | Jul 6, 2022 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | Feb 24, 2022 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 3 | Jul 6, 2022 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 6 | Dec 5, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Feb 17, 2022 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 2 | May 5, 2022 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Feb 17, 2022 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 2 | Aug 17, 2022 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 | Dec 5, 2024 |
| Intellectual developmental disorder with neuropsychiatric features | 2 | Dec 5, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 9 | Dec 5, 2024 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 1 | Jul 6, 2022 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 3 | Aug 17, 2022 |
| Intellectual developmental disorder with seizures and language delay | 11 | Dec 5, 2024 |
| Intellectual developmental disorder with short stature and behavioral abnormalities | 1 | Dec 5, 2024 |
| Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | 1 | Jul 6, 2022 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 2 | Feb 24, 2022 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Dec 5, 2024 |
| Intellectual developmental disorder, X-linked 108 | 2 | May 5, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 1 | Sep 15, 2023 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 9 | Jul 6, 2022 |
| Intellectual developmental disorder, autosomal dominant 64 | 2 | Dec 5, 2024 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | May 5, 2022 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Dec 5, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 2 | Dec 5, 2024 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Nov 21, 2021 |
| Intellectual developmental disorder, autosomal recessive 71 | 2 | Nov 21, 2021 |
| Intellectual developmental disorder, autosomal recessive 74 | 2 | Dec 5, 2024 |
| Intellectual disability | 1 | Sep 3, 2020 |
| Intellectual disability, FRA12A type | 1 | Feb 24, 2022 |
| Intellectual disability, X-linked 1 | 3 | Dec 5, 2024 |
| Intellectual disability, X-linked 100 | 1 | Feb 17, 2022 |
| Intellectual disability, X-linked 102 | 1 | Dec 5, 2024 |
| Intellectual disability, X-linked 104 | 4 | Aug 17, 2022 |
| Intellectual disability, X-linked 19 | 1 | Aug 17, 2022 |
| Intellectual disability, X-linked 21 | 3 | Jul 6, 2022 |
| Intellectual disability, X-linked 30 | 1 | Jul 6, 2022 |
| Intellectual disability, X-linked 49 | 3 | Dec 5, 2024 |
| Intellectual disability, X-linked 50 | 2 | Nov 22, 2023 |
| Intellectual disability, X-linked 63 | 3 | Jul 6, 2022 |
| Intellectual disability, X-linked 72 | 1 | Feb 24, 2022 |
| Intellectual disability, X-linked 90 | 1 | Jul 6, 2022 |
| Intellectual disability, X-linked 97 | 1 | May 17, 2021 |
| Intellectual disability, X-linked 99 | 3 | Dec 5, 2024 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 4 | Dec 5, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 10 | Dec 5, 2024 |
| Intellectual disability, X-linked, syndromic, Houge type | 3 | Aug 30, 2021 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | May 17, 2021 |
| Intellectual disability, anterior maxillary protrusion, and strabismus | 2 | May 5, 2022 |
| Intellectual disability, autosomal dominant 1 | 6 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 10 | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 11 | 1 | Feb 17, 2022 |
| Intellectual disability, autosomal dominant 13 | 18 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 14 | 16 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 15 | 5 | Aug 17, 2022 |
| Intellectual disability, autosomal dominant 16 | 5 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 2 | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 20 | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 22 | 3 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 24 | 3 | Feb 24, 2022 |
| Intellectual disability, autosomal dominant 27 | 4 | May 5, 2022 |
| Intellectual disability, autosomal dominant 29 | 8 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 3 | 3 | Feb 17, 2022 |
| Intellectual disability, autosomal dominant 30 | 2 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 33 | 4 | Dec 9, 2024 |
| Intellectual disability, autosomal dominant 34 | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 38 | 2 | May 5, 2022 |
| Intellectual disability, autosomal dominant 39 | 7 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 40 | 3 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 41 | 5 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 42 | 3 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 43 | 12 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 45 | 20 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 46 | 7 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 47 | 7 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 5 | 13 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 50 | 6 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 51 | 6 | Sep 15, 2023 |
| Intellectual disability, autosomal dominant 52 | 13 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 53 | 2 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 54 | 3 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 55, with seizures | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 56 | 4 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 57 | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal dominant 58 | 1 | May 5, 2022 |
| Intellectual disability, autosomal dominant 6 | 6 | Jul 6, 2022 |
| Intellectual disability, autosomal dominant 8 | 1 | May 5, 2022 |
| Intellectual disability, autosomal dominant 9 | 12 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 1 | 1 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 12 | 1 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 13 | 5 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 18 | 1 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 27 | 4 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 3 | 3 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 43 | 3 | May 17, 2021 |
| Intellectual disability, autosomal recessive 44 | 1 | Jul 22, 2021 |
| Intellectual disability, autosomal recessive 46 | 1 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 47 | 2 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 5 | 1 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 51 | 2 | May 1, 2023 |
| Intellectual disability, autosomal recessive 52 | 2 | Jul 6, 2022 |
| Intellectual disability, autosomal recessive 54 | 1 | Feb 17, 2022 |
| Intellectual disability, autosomal recessive 57 | 2 | Nov 21, 2021 |
| Intellectual disability, autosomal recessive 6 | 3 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 64 | 1 | Feb 24, 2022 |
| Intellectual disability, autosomal recessive 65 | 3 | Dec 5, 2024 |
| Intellectual disability, autosomal recessive 7 | 1 | Nov 21, 2021 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 5 | Feb 24, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 14 | Dec 5, 2024 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 3 | Sep 15, 2023 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 12 | Dec 5, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 7 | Aug 17, 2022 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 5 | May 5, 2022 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 6 | Aug 17, 2022 |
| Intestinal hypomagnesemia 1 | 1 | May 17, 2021 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 2 | Dec 5, 2024 |
| Isolated focal cortical dysplasia type II | 1 | Dec 5, 2024 |
| Isovaleryl-CoA dehydrogenase deficiency | 1 | Feb 5, 2021 |
| JADE2-associated Neurodevelopmental Disorder | 1 | Jul 6, 2022 |
| JARID2-associated Neurodevelopmental disorder | 2 | Jul 6, 2022 |
| JARID2-related Neurodevelopmental Disorder | 1 | Feb 24, 2022 |
| JARID2-related Neurodevelopmental syndrome | 1 | May 5, 2022 |
| JMJD1C-associated Neurodevelopmental Disorder | 5 | Feb 24, 2022 |
| JMJD1C-related Neurodevelopmental disorder | 1 | Jul 6, 2022 |
| Jervell and Lange-Nielsen syndrome 1 | 6 | Nov 22, 2023 |
| Jervell and Lange-Nielsen syndrome 2 | 1 | May 1, 2023 |
| Joubert syndrome 17 | 2 | Feb 17, 2022 |
| Joubert syndrome 20 | 1 | Jul 6, 2022 |
| Joubert syndrome 21 | 1 | Nov 21, 2021 |
| Joubert syndrome 23 | 2 | Aug 17, 2022 |
| Joubert syndrome 26 | 3 | Feb 24, 2022 |
| Joubert syndrome 27 | 2 | Dec 5, 2024 |
| Joubert syndrome 28 | 11 | Sep 15, 2023 |
| Joubert syndrome 3 | 1 | Aug 30, 2021 |
| Joubert syndrome 31 | 1 | Jul 6, 2022 |
| Joubert syndrome 32 | 1 | Nov 22, 2023 |
| Joubert syndrome 40 | 4 | May 1, 2023 |
| Joubert syndrome 5 | 23 | Sep 15, 2023 |
| Joubert syndrome 6 | 1 | May 17, 2021 |
| Joubert syndrome 7 | 1 | Aug 30, 2021 |
| Joubert syndrome 9 | 3 | Dec 5, 2024 |
| KATNAL2-related autism | 1 | Dec 5, 2024 |
| KBG syndrome | 25 | Dec 5, 2024 |
| KCNAB2-related epilepsy | 1 | Dec 5, 2024 |
| KCND2-associated neurodevelopmental syndrome | 1 | Jul 6, 2022 |
| KCNN2-related Neurodevelopmental movement disorder | 1 | Feb 24, 2022 |
| KCNQ1-related epilepsy | 1 | Feb 24, 2022 |
| KCNQ3-related Autism and developmental disability | 1 | Dec 5, 2024 |
| KDM5A-associated neurodevelopmental syndrome | 1 | Aug 17, 2022 |
| KDM5A-related Neurodevelopmental disorder with autism | 1 | Feb 24, 2022 |
| KIF16B-related Intellectual Disability | 1 | Dec 5, 2024 |
| KIF21B-related Neurodevelopmental disorder | 2 | May 5, 2022 |
| KINSSHIP syndrome | 1 | Jul 6, 2022 |
| Kabuki syndrome 1 | 32 | Dec 5, 2024 |
| Kabuki syndrome 2 | 2 | Jul 6, 2022 |
| Keppen-Lubinsky syndrome | 1 | Feb 24, 2022 |
| Keratosis follicularis | 3 | Feb 24, 2022 |
| Khan-Khan-Katsanis syndrome | 2 | May 5, 2022 |
| Kilquist syndrome | 2 | May 5, 2022 |
| King Denborough syndrome | 3 | May 5, 2022 |
| Kleefstra syndrome 1 | 6 | Dec 5, 2024 |
| Kleefstra syndrome 2 | 28 | Dec 5, 2024 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Jul 6, 2022 |
| Knobloch syndrome | 2 | Nov 21, 2021 |
| Knobloch syndrome 1 | 3 | Dec 5, 2024 |
| Koolen-de Vries syndrome | 3 | Dec 5, 2024 |
| Kury-Isidor syndrome | 1 | Nov 22, 2023 |
| LAMC1-associated syndrome | 1 | May 5, 2022 |
| LAMC1-related autism spectrum disorder | 1 | Jul 6, 2022 |
| LEOPARD syndrome 1 | 1 | May 15, 2024 |
| LEOPARD syndrome 2 | 3 | Jul 6, 2022 |
| LEOPARD syndrome 3 | 1 | Aug 17, 2022 |
| LRP1B-associated developmental disorder | 1 | Feb 24, 2022 |
| Lafora disease | 1 | Jul 6, 2022 |
| Lamb-Shaffer syndrome | 7 | Dec 5, 2024 |
| Landau-Kleffner syndrome | 14 | Dec 5, 2024 |
| Laron-type isolated somatotropin defect | 1 | Nov 22, 2023 |
| Larsen syndrome | 4 | Nov 22, 2023 |
| Lateral meningocele syndrome | 2 | Nov 22, 2023 |
| Lattice corneal dystrophy Type I | 1 | May 5, 2022 |
| Laurence-Moon syndrome | 2 | May 5, 2022 |
| Leber congenital amaurosis 10 | 20 | Sep 15, 2023 |
| Left ventricular noncompaction 1 | 1 | Sep 15, 2023 |
| Left ventricular noncompaction 10 | 7 | May 1, 2023 |
| Left ventricular noncompaction 8 | 4 | Dec 5, 2024 |
| Legius syndrome | 3 | Feb 17, 2022 |
| Leigh syndrome | 2 | Nov 21, 2021 |
| Lessel-Kreienkamp syndrome | 2 | Aug 17, 2022 |
| Lethal Kniest-like syndrome | 2 | Aug 17, 2022 |
| Lethal congenital contracture syndrome 4 | 1 | May 17, 2021 |
| Lethal polymalformative syndrome, Boissel type | 1 | Jul 22, 2021 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 | Feb 17, 2022 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Dec 5, 2024 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 2 | Jul 6, 2022 |
| Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | 1 | May 5, 2022 |
| Li-Fraumeni syndrome 1 | 2 | Sep 15, 2023 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 2 | Nov 22, 2023 |
| Liang-Wang syndrome | 5 | Jul 6, 2022 |
| Lipase deficiency, combined | 16 | Nov 22, 2023 |
| Lipoprotein glomerulopathy | 1 | Dec 5, 2022 |
| Lissencephaly 10 | 1 | Nov 21, 2021 |
| Lissencephaly 9 with complex brainstem malformation | 14 | Dec 5, 2024 |
| Lissencephaly due to LIS1 mutation | 1 | Jul 6, 2022 |
| Loeys-Dietz syndrome 2 | 2 | Jul 6, 2022 |
| Long QT syndrome 1 | 14 | Dec 5, 2024 |
| Long QT syndrome 10 | 1 | Feb 17, 2022 |
| Long QT syndrome 15 | 1 | May 1, 2023 |
| Long QT syndrome 16 | 1 | May 1, 2023 |
| Long QT syndrome 2 | 8 | Dec 5, 2024 |
| Long QT syndrome 3 | 6 | Dec 5, 2024 |
| Long QT syndrome 5 | 2 | May 1, 2023 |
| Long QT syndrome 6 | 2 | May 1, 2023 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 | May 15, 2024 |
| Long qt syndrome 8 | 8 | Sep 15, 2023 |
| Lowe syndrome | 2 | Dec 5, 2024 |
| Lowry-Wood syndrome | 2 | Dec 5, 2024 |
| Luscan-Lumish syndrome | 28 | Dec 5, 2024 |
| Lymphatic malformation 6 | 2 | May 15, 2024 |
| Lymphatic malformation 7 | 1 | Aug 17, 2022 |
| Lynch syndrome 4 | 1 | May 15, 2024 |
| Lynch syndrome 5 | 1 | Jul 6, 2022 |
| Lysosomal acid lipase deficiency | 4 | Nov 22, 2023 |
| MAP2-associated Neurodevelopmental Disorder | 1 | May 5, 2022 |
| MAST-associated epilepsy syndrome | 1 | May 5, 2022 |
| MAST4-associated generalized epilepsy | 1 | Aug 17, 2022 |
| MDGA2-related intellectual disability | 1 | Dec 5, 2024 |
| MHC class I deficiency | 2 | Feb 24, 2022 |
| MHC class II deficiency | 3 | Aug 30, 2021 |
| MICAL1-related Lateral temporal epilepsy | 3 | May 1, 2023 |
| MIRAGE syndrome | 3 | Jul 6, 2022 |
| MT-CYB associated Exercise intolerance | 1 | Jul 6, 2022 |
| MT-CYB associated Mitochondrial myopathy | 1 | Jul 6, 2022 |
| MYLK3-associated cardiomyopathy | 1 | Sep 15, 2023 |
| Macrocephaly, acquired, with impaired intellectual development | 3 | May 5, 2022 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 5 | Dec 5, 2024 |
| Macrocephaly-autism syndrome | 1 | Feb 17, 2022 |
| Macrocephaly-developmental delay syndrome | 1 | Dec 5, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 6 | Dec 5, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 3 | Sep 15, 2023 |
| Macular degeneration, early-onset | 1 | Sep 15, 2023 |
| Malan overgrowth syndrome | 3 | Sep 15, 2023 |
| Malignant hyperthermia, susceptibility to, 5 | 1 | Nov 22, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | May 5, 2022 |
| Maple syrup urine disease | 1 | Feb 24, 2022 |
| Marden-Walker syndrome | 1 | Dec 5, 2024 |
| Marfan syndrome | 4 | Dec 5, 2024 |
| Marshall syndrome | 3 | May 15, 2024 |
| Marshall-Smith syndrome | 2 | Sep 15, 2023 |
| Martsolf syndrome 1 | 1 | Dec 5, 2024 |
| Maturity-onset diabetes of the young type 1 | 4 | Sep 15, 2023 |
| Maturity-onset diabetes of the young type 10 | 2 | Dec 5, 2022 |
| Maturity-onset diabetes of the young type 13 | 1 | May 1, 2023 |
| Maturity-onset diabetes of the young type 2 | 6 | Sep 15, 2023 |
| Maturity-onset diabetes of the young type 3 | 7 | Sep 15, 2023 |
| Maturity-onset diabetes of the young type 4 | 4 | May 1, 2023 |
| Maturity-onset diabetes of the young type 6 | 1 | Dec 5, 2022 |
| Maturity-onset diabetes of the young type 8 | 9 | Nov 22, 2023 |
| Maturity-onset diabetes of the young type 9 | 8 | Sep 15, 2023 |
| McKusick-Kaufman syndrome | 6 | Sep 15, 2023 |
| Meckel syndrome, type 1 | 11 | Sep 15, 2023 |
| Meckel syndrome, type 10 | 1 | Feb 17, 2022 |
| Meckel syndrome, type 11 | 1 | Jul 6, 2022 |
| Meckel syndrome, type 4 | 21 | Sep 15, 2023 |
| Meckel syndrome, type 6 | 3 | Dec 5, 2024 |
| Meckel syndrome, type 9 | 1 | Dec 5, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | May 5, 2022 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 3 | Nov 22, 2023 |
| Megabladder, congenital | 1 | May 15, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 1 | May 15, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 2 | May 15, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 2 | Nov 22, 2023 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Feb 24, 2022 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 3 | Nov 21, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 2 | Dec 5, 2024 |
| Menke-Hennekam syndrome 1 | 1 | Dec 5, 2024 |
| Menke-Hennekam syndrome 2 | 2 | Dec 5, 2024 |
| Menkes kinky-hair syndrome | 3 | Nov 22, 2023 |
| Merosin deficient congenital muscular dystrophy | 8 | Dec 5, 2024 |
| Metaphyseal anadysplasia 2 | 1 | Feb 24, 2022 |
| Methylcobalamin deficiency type cblE | 1 | May 17, 2021 |
| Methylcobalamin deficiency type cblG | 2 | Feb 17, 2022 |
| Methylmalonic acidemia with homocystinuria, type cblX | 3 | Feb 24, 2022 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Nov 22, 2023 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 2 | Dec 5, 2024 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 3 | Feb 17, 2022 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Feb 24, 2022 |
| Microcephaly 1, primary, autosomal recessive | 2 | Dec 5, 2024 |
| Microcephaly 14, primary, autosomal recessive | 1 | Dec 5, 2024 |
| Microcephaly 17, primary, autosomal recessive | 1 | Dec 5, 2024 |
| Microcephaly 18, primary, autosomal dominant | 12 | Dec 5, 2024 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 3 | Dec 5, 2024 |
| Microcephaly 4, primary, autosomal recessive | 2 | Aug 17, 2022 |
| Microcephaly 5, primary, autosomal recessive | 5 | May 5, 2022 |
| Microcephaly 6, primary, autosomal recessive | 2 | Jul 6, 2022 |
| Microcephaly 8, primary, autosomal recessive | 1 | Feb 17, 2022 |
| Microcephaly 9, primary, autosomal recessive | 1 | Feb 24, 2022 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Dec 5, 2024 |
| Microcephaly, epilepsy, and diabetes syndrome | 1 | Aug 30, 2021 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | May 17, 2021 |
| Microcephaly, seizures, and developmental delay | 5 | Dec 5, 2024 |
| Microcephaly, short stature, and limb abnormalities | 2 | Dec 5, 2024 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 4 | Dec 5, 2024 |
| Microcephaly-micromelia syndrome | 1 | Feb 24, 2022 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 12 | Dec 5, 2024 |
| Microphthalmia, isolated, with coloboma 9 | 2 | Nov 22, 2023 |
| Microphthalmia, syndromic 1 | 1 | May 5, 2022 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 1 | Nov 22, 2023 |
| Migraine, familial hemiplegic, 1 | 3 | Sep 15, 2023 |
| Migraine, familial hemiplegic, 2 | 3 | Jul 6, 2022 |
| Migraine, familial hemiplegic, 3 | 3 | Dec 5, 2024 |
| Migraine, with or without aura, susceptibility to, 13 | 1 | Jul 6, 2022 |
| Mismatch repair cancer syndrome 1 | 1 | Feb 17, 2022 |
| Mitchell syndrome | 1 | Feb 17, 2022 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Dec 5, 2024 |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 2 | Feb 24, 2022 |
| Mitochondrial DNA depletion syndrome 4b | 4 | Dec 5, 2024 |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 | May 15, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 11 | 1 | Aug 30, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 | Jul 6, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 22 | 1 | Feb 24, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 26 | 1 | Feb 5, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 3 | 1 | Dec 5, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 33 | 1 | May 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Feb 5, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 1 | Dec 5, 2024 |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 | Feb 5, 2021 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Jul 22, 2021 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 2 | Jul 6, 2022 |
| Mitochondrial disease | 2 | May 15, 2024 |
| Mitochondrial trifunctional protein deficiency 1 | 1 | May 15, 2024 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 | May 5, 2022 |
| Mowat-Wilson syndrome | 3 | May 5, 2022 |
| Moyamoya disease 2 | 5 | Jul 6, 2022 |
| Mucocutaneous ulceration, chronic | 1 | Feb 24, 2022 |
| Mucopolysaccharidosis type 7 | 1 | Feb 24, 2022 |
| Mucopolysaccharidosis, MPS-II | 1 | Nov 22, 2023 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Jul 6, 2022 |
| Mucopolysaccharidosis, MPS-III-B | 5 | Dec 5, 2024 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Feb 5, 2021 |
| Muenke syndrome | 1 | Dec 5, 2024 |
| Mullegama-Klein-Martinez syndrome | 1 | Sep 15, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Dec 5, 2024 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Feb 5, 2021 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Jul 6, 2022 |
| Multiple endocrine neoplasia, type 1 | 1 | Dec 5, 2022 |
| Multiple mitochondrial dysfunctions syndrome 6 | 4 | Feb 24, 2022 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 8 | Dec 5, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Feb 24, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2 | May 15, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Feb 17, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 4 | May 15, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 | Nov 22, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 | Dec 5, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 | May 15, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 | Feb 17, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 4 | May 15, 2024 |
| Muscular dystrophy-dystroglycanopathy type B5 | 2 | Nov 22, 2023 |
| Myasthenic syndrome, congenital, 24, presynaptic | 1 | Aug 30, 2021 |
| Myoclonic dystonia 11 | 1 | Jul 6, 2022 |
| Myoclonic epilepsy of Lafora 1 | 2 | Dec 5, 2024 |
| Myoclonic epilepsy of Lafora 2 | 1 | Dec 5, 2024 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2 | Feb 17, 2022 |
| Myoclonic-astatic epilepsy | 8 | Jul 6, 2022 |
| Myoclonus, familial, 2 | 2 | Dec 5, 2024 |
| Myofibrillar myopathy 6 | 1 | Dec 5, 2022 |
| Myopathy, congenital, with tremor | 1 | May 17, 2021 |
| Myopathy, tubular aggregate, 1 | 1 | Nov 22, 2023 |
| NARG2-related Intellectual disability | 2 | Dec 5, 2024 |
| NCKAP1-associated Neurodevelopmental disorder | 1 | Jul 6, 2022 |
| NCOR1-related Neurodevelopmental disorder | 1 | Dec 5, 2024 |
| NCOR1-related autism spectrum disorder | 1 | May 5, 2022 |
| NEBL-related Cardiomyopathy | 1 | Sep 15, 2023 |
| NRXN1-related Complex neurodevelopmental disorder | 1 | Jul 6, 2022 |
| NRXN2-associated Neurodevelopmental disorder | 1 | Feb 28, 2022 |
| NRXN2-related Austism Spectrum Disorder | 1 | Feb 24, 2022 |
| NRXN2-related autism spectrum disorder | 1 | May 5, 2022 |
| NRXN3-associated neurodevelopmental disorder | 1 | Dec 5, 2024 |
| Nager syndrome | 1 | Jul 6, 2022 |
| Nance-Horan syndrome | 2 | Jul 6, 2022 |
| Naxos disease | 2 | May 1, 2023 |
| Nemaline myopathy 2 | 2 | Nov 22, 2023 |
| Neonatal diabetes mellitus with congenital hypothyroidism | 15 | May 1, 2023 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Aug 17, 2022 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Dec 5, 2024 |
| Nephrotic syndrome, type 18 | 1 | Dec 5, 2024 |
| Netherton syndrome | 3 | Feb 17, 2022 |
| Neurodegeneration with brain iron accumulation 2B | 2 | Feb 24, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Feb 5, 2021 |
| Neurodegeneration with brain iron accumulation 6 | 1 | Feb 5, 2021 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Feb 17, 2022 |
| Neurodevelopmental disorder | 7 | Dec 5, 2024 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2 | Feb 17, 2022 |
| Neurodevelopmental disorder with absent language and variable seizures | 1 | Feb 24, 2022 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 3 | Jul 6, 2022 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 | May 15, 2024 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 4 | May 5, 2022 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 4 | Dec 5, 2024 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 5 | Aug 17, 2022 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 5 | Dec 5, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 11 | Dec 5, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | 1 | Jul 6, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 4 | Dec 5, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 11 | Dec 5, 2024 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 2 | Aug 17, 2022 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 1 | May 5, 2022 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 | Dec 5, 2024 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Feb 24, 2022 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 5 | Dec 5, 2024 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 | Dec 5, 2024 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 4 | Nov 22, 2023 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 2 | Feb 24, 2022 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 5 | Feb 24, 2022 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 3 | Jul 6, 2022 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Nov 21, 2021 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 3 | Dec 5, 2024 |
| Neurodevelopmental disorder with involuntary movements | 3 | Jul 6, 2022 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | Nov 22, 2023 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | May 17, 2021 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 | Feb 24, 2022 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 1 | Feb 17, 2022 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Feb 24, 2022 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 1 | May 5, 2022 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 2 | May 5, 2022 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 4 | May 5, 2022 |
| Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 1 | May 15, 2024 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 1 | Dec 5, 2024 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 8 | Dec 9, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 6 | Aug 17, 2022 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 14 | Dec 5, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | May 5, 2022 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 7 | Dec 5, 2024 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 2 | Jul 6, 2022 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 6 | Dec 5, 2024 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 2 | Dec 5, 2024 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Aug 17, 2022 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 13 | Dec 5, 2024 |
| Neurodevelopmental disorder with seizures and brain atrophy | 2 | Aug 17, 2022 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 9 | Dec 5, 2024 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 2 | Dec 5, 2024 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 6 | May 5, 2022 |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 1 | May 17, 2021 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 4 | Dec 5, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Nov 22, 2023 |
| Neurodevelopmental disorder with variable cerebral and eye anomalies | 1 | May 1, 2023 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 4 | Dec 5, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Aug 17, 2022 |
| Neurofibromatosis, type 1 | 6 | Nov 22, 2023 |
| Neurofibromatosis, type 2 | 3 | Jul 6, 2022 |
| Neurofibromatosis-Noonan syndrome | 2 | Feb 24, 2022 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 | May 5, 2022 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 | Jul 6, 2022 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Dec 5, 2024 |
| Neuronal ceroid lipofuscinosis 10 | 1 | Dec 5, 2024 |
| Neuronal ceroid lipofuscinosis 11 | 1 | Feb 5, 2021 |
| Neuronal ceroid lipofuscinosis 2 | 4 | Dec 5, 2024 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Dec 5, 2024 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Dec 5, 2024 |
| Neuronal ceroid lipofuscinosis 8 | 4 | Dec 5, 2024 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 3 | Dec 5, 2024 |
| Neuronopathy, distal hereditary motor, type 5C | 2 | Nov 22, 2023 |
| Neuroocular syndrome | 1 | Aug 17, 2022 |
| Neuroocular syndrome 1 | 2 | Dec 5, 2024 |
| Neurooculocardiogenitourinary syndrome | 3 | Dec 5, 2024 |
| Neuropathy, hereditary sensory, type 2C | 2 | Aug 17, 2022 |
| Neutral 1 amino acid transport defect | 2 | May 5, 2022 |
| Nicolaides-Baraitser syndrome | 5 | Jul 6, 2022 |
| Niemann-Pick disease, type A | 2 | Feb 17, 2022 |
| Niemann-Pick disease, type B | 1 | Feb 17, 2022 |
| Niemann-Pick disease, type C1 | 4 | Dec 5, 2024 |
| Nizon-Isidor syndrome | 7 | Jul 6, 2022 |
| Noonan syndrome 1 | 5 | May 15, 2024 |
| Noonan syndrome 10 | 2 | Jul 6, 2022 |
| Noonan syndrome 2 | 3 | Jul 6, 2022 |
| Noonan syndrome 4 | 7 | Dec 5, 2024 |
| Noonan syndrome 5 | 4 | Jul 6, 2022 |
| Noonan syndrome 6 | 1 | Feb 24, 2022 |
| Noonan syndrome 7 | 2 | Aug 17, 2022 |
| Noonan syndrome 8 | 1 | Aug 30, 2021 |
| Noonan syndrome 9 | 6 | Dec 5, 2024 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Jul 6, 2022 |
| Norman-Roberts syndrome | 5 | Nov 22, 2023 |
| Norum disease | 4 | May 1, 2023 |
| O'Donnell-Luria-Rodan syndrome | 6 | Dec 5, 2024 |
| Obesity | 5 | Dec 5, 2022 |
| Obesity due to CEP19 deficiency | 1 | May 1, 2023 |
| Obesity due to leptin receptor gene deficiency | 7 | Sep 15, 2023 |
| Obesity due to pro-opiomelanocortin deficiency | 7 | Dec 5, 2024 |
| Obesity due to prohormone convertase I deficiency | 5 | Sep 15, 2023 |
| Obesity with Prader-Willi like phenotype | 1 | Dec 5, 2022 |
| Obesity, hyperphagia, and developmental delay | 4 | Dec 5, 2024 |
| Occipital pachygyria and polymicrogyria | 6 | Dec 5, 2024 |
| Oculocutaneous albinism type 1B | 2 | Aug 14, 2024 |
| Oculodentodigital dysplasia | 1 | May 15, 2024 |
| Oculofaciocardiodental syndrome | 3 | Dec 5, 2024 |
| Odonto-onycho-dermal dysplasia | 1 | Sep 15, 2023 |
| Ogden syndrome | 2 | Dec 5, 2024 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 3 | Dec 5, 2024 |
| Orofacial cleft 1 | 1 | Sep 15, 2023 |
| Orofaciodigital syndrome 17 | 1 | Feb 17, 2022 |
| Orofaciodigital syndrome type 14 | 1 | Aug 30, 2021 |
| Orofaciodigital syndrome type 6 | 2 | Feb 17, 2022 |
| Orthostatic hypotension 1 | 1 | May 15, 2024 |
| Osteodysplastic primordial dwarfism, type 1 | 2 | Dec 5, 2024 |
| Otofaciocervical syndrome 1 | 1 | May 15, 2024 |
| Otofaciocervical syndrome 2 | 1 | Aug 30, 2021 |
| PEHO syndrome | 1 | Nov 21, 2021 |
| PGLYRP3-associated inflamatory bowel disease | 1 | Jul 6, 2022 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 6 | Dec 5, 2024 |
| PIDD1-associated neurodevelopmental disorder | 2 | Jul 6, 2022 |
| PIK3AP1-Associated Seizure Disorder | 1 | Jul 6, 2022 |
| PIK3AP1-related early onset epileptic encephalopathy | 1 | Jul 6, 2022 |
| PLXNA1-associated encephalopathy | 1 | Feb 24, 2022 |
| PLXNA1-related Neurodevelopmental disorder with variable cerebral and eye anomalies | 1 | Jul 6, 2022 |
| PLXNA3-associated seizure disorder | 1 | Feb 24, 2022 |
| PLXNB3-related Intellectual disability | 1 | Jul 6, 2022 |
| PPARG-related familial partial lipodystrophy | 2 | May 1, 2023 |
| PPP1R13L-associated cardiac phenotype | 1 | Jul 6, 2022 |
| PPR12-associated neurodevelopmental disorder | 1 | Jul 6, 2022 |
| PRICKLE2-associated epilepsy syndrome | 1 | May 5, 2022 |
| PRR12-associated Intellectual Disability | 1 | May 5, 2022 |
| PRR12-related neuroocular syndrome | 1 | Jul 6, 2022 |
| PTPN4-related Neurodevelopmental Disorder | 1 | Dec 5, 2024 |
| PTPRT-associated neurodevelopmentaldisorder | 1 | Jul 6, 2022 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 1 | Feb 24, 2022 |
| Pachyonychia congenita 3 | 1 | Nov 22, 2023 |
| Paganini-Miozzo syndrome | 3 | Aug 30, 2021 |
| Pallister-Hall syndrome | 3 | Dec 5, 2024 |
| Pancreatic agenesis 1 | 1 | May 1, 2023 |
| Pancreatic agenesis 2 | 6 | Sep 15, 2023 |
| Pancytopenia due to IKZF1 mutations | 2 | Feb 24, 2022 |
| Pancytopenia-developmental delay syndrome | 1 | Aug 17, 2022 |
| Paragangliomas 3 | 1 | May 17, 2021 |
| Paragangliomas 4 | 1 | Feb 5, 2021 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Aug 17, 2022 |
| Paroxysmal extreme pain disorder | 1 | Jul 6, 2022 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Jul 22, 2021 |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 3 | Sep 15, 2023 |
| Patent ductus arteriosus 2 | 2 | May 1, 2023 |
| Patent ductus arteriosus 3 | 1 | Dec 5, 2024 |
| Peeling skin syndrome 1 | 1 | Jul 22, 2021 |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 2 | Nov 22, 2023 |
| Pelger-Huët anomaly | 1 | Feb 17, 2022 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Sep 15, 2023 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Dec 5, 2024 |
| Periventricular nodular heterotopia 6 | 3 | Dec 5, 2024 |
| Periventricular nodular heterotopia 7 | 6 | Aug 17, 2022 |
| Periventricular nodular heterotopia 9 | 12 | Dec 5, 2024 |
| Permanent neonatal diabetes mellitus 1 | 1 | Dec 5, 2022 |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | 5 | Sep 15, 2023 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 1 | Dec 5, 2024 |
| Perrault syndrome 1 | 1 | May 5, 2022 |
| Perrault syndrome 5 | 2 | Feb 24, 2022 |
| Pettigrew syndrome | 1 | Feb 5, 2021 |
| Phelan-McDermid syndrome | 5 | Jul 6, 2022 |
| Phenylketonuria | 6 | Aug 17, 2022 |
| Pheochromocytoma | 2 | May 1, 2023 |
| Pierpont syndrome | 3 | Dec 5, 2024 |
| Pigmented nodular adrenocortical disease, primary, 2 | 1 | Feb 24, 2022 |
| Pilarowski-Bjornsson syndrome | 6 | Dec 5, 2024 |
| Pitt-Hopkins syndrome | 6 | Dec 5, 2024 |
| Pitt-Hopkins-like syndrome 2 | 3 | Dec 5, 2024 |
| Pituitary hormone deficiency, combined, 2 | 1 | Dec 5, 2024 |
| Pityriasis rubra pilaris | 1 | Jul 6, 2022 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 1 | Aug 30, 2021 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | May 5, 2022 |
| Polycystic kidney disease, adult type | 3 | May 15, 2024 |
| Polydactyly, postaxial, type A1 | 1 | May 15, 2024 |
| Polyglandular autoimmune syndrome, type 1 | 3 | May 17, 2021 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | May 5, 2022 |
| Polysyndactyly 4 | 1 | May 15, 2024 |
| Pontocerebellar hypoplasia type 1B | 1 | Jul 22, 2021 |
| Pontocerebellar hypoplasia type 2D | 1 | Jul 6, 2022 |
| Pontocerebellar hypoplasia type 3 | 3 | Aug 17, 2022 |
| Pontocerebellar hypoplasia type 6 | 2 | Dec 5, 2024 |
| Pontocerebellar hypoplasia type 8 | 1 | Jul 22, 2021 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 2 | May 15, 2024 |
| Pontocerebellar hypoplasia, type 14 | 1 | Aug 17, 2022 |
| Porencephaly 2 | 15 | Dec 5, 2024 |
| Porokeratosis 7, multiple types | 1 | Feb 24, 2022 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 5 | Aug 17, 2022 |
| Primary ciliary dyskinesia 14 | 2 | Feb 17, 2022 |
| Primary ciliary dyskinesia 3 | 8 | May 15, 2024 |
| Primary ciliary dyskinesia 35 | 1 | Jul 22, 2021 |
| Primary ciliary dyskinesia 5 | 2 | Jul 22, 2021 |
| Primary ciliary dyskinesia 7 | 6 | May 15, 2024 |
| Primary dilated cardiomyopathy | 2 | Sep 15, 2023 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 | Jul 22, 2021 |
| Primrose syndrome | 2 | May 15, 2024 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | Feb 24, 2022 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Jul 22, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Nov 22, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Feb 24, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Nov 22, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 1 | May 15, 2024 |
| Progressive familial heart block, type 1A | 1 | Sep 15, 2023 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 3 | Sep 15, 2023 |
| Progressive myoclonic epilepsy type 3 | 1 | Aug 30, 2021 |
| Progressive myoclonic epilepsy type 9 | 1 | Feb 17, 2022 |
| Progressive osseous heteroplasia | 2 | May 1, 2023 |
| Progressive sclerosing poliodystrophy | 5 | Dec 5, 2024 |
| Prolidase deficiency | 1 | Dec 5, 2024 |
| Propionic acidemia | 2 | Nov 22, 2023 |
| Proteasome-associated autoinflammatory syndrome 4 | 1 | Feb 24, 2022 |
| Proteinuria, chronic benign | 2 | Aug 17, 2022 |
| Prune belly syndrome | 1 | Jul 6, 2022 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | May 17, 2021 |
| Pseudohypoparathyroidism type 1B | 13 | Sep 15, 2023 |
| Pseudohypoparathyroidism type 1C | 13 | Sep 15, 2023 |
| Pseudohypoparathyroidism type I A | 13 | Sep 15, 2023 |
| Pseudopseudohypoparathyroidism | 10 | Sep 15, 2023 |
| Pseudoxanthoma elasticum, forme fruste | 1 | May 5, 2022 |
| Psoriasis 2 | 1 | Jul 6, 2022 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Feb 17, 2022 |
| Pulmonary arterial hypertension | 1 | May 15, 2024 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Sep 15, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Sep 15, 2023 |
| Pulmonary hypertension, primary, 2 | 1 | Jul 6, 2022 |
| Pulmonary hypertension, primary, 3 | 3 | Sep 15, 2023 |
| Pyogenic bacterial infections due to MyD88 deficiency | 2 | Feb 17, 2022 |
| Pyridoxal phosphate-responsive seizures | 3 | Dec 5, 2024 |
| Pyridoxine-dependent epilepsy | 3 | Dec 5, 2024 |
| Pyruvate dehydrogenase E1-alpha deficiency | 3 | Dec 5, 2024 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | May 17, 2021 |
| Quebec platelet disorder | 1 | Jul 6, 2022 |
| RASopathy | 3 | Dec 5, 2024 |
| RYR3-related Epileptic encephalopathy | 11 | Dec 5, 2024 |
| Radio-Tartaglia syndrome | 3 | Jul 6, 2022 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | May 15, 2024 |
| Rafiq syndrome | 6 | Dec 5, 2024 |
| Rahman syndrome | 1 | Jul 6, 2022 |
| Rauch-Steindl syndrome | 1 | May 15, 2024 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 2 | Aug 17, 2022 |
| Regressive spondylometaphyseal dysplasia | 2 | Nov 22, 2023 |
| Reis-Bucklers' corneal dystrophy | 1 | May 5, 2022 |
| Renal coloboma syndrome | 2 | Dec 5, 2024 |
| Renal cysts and diabetes syndrome | 2 | Dec 5, 2022 |
| Renal hypomagnesemia 2 | 1 | Jul 6, 2022 |
| Restrictive dermopathy 2 | 1 | May 1, 2023 |
| Retinal arterial tortuosity | 1 | Nov 22, 2023 |
| Retinal dystrophy and obesity | 15 | Nov 22, 2023 |
| Retinitis pigmentosa 55 | 1 | Sep 15, 2023 |
| Retinitis pigmentosa 71 | 12 | Sep 15, 2023 |
| Retinitis pigmentosa 73 | 1 | Dec 5, 2024 |
| Retinitis pigmentosa 74 | 6 | Nov 22, 2023 |
| Retinitis pigmentosa 80 | 1 | Nov 22, 2023 |
| Rett syndrome | 5 | Dec 5, 2024 |
| Roifman syndrome | 2 | Dec 5, 2024 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Dec 9, 2024 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 2 | Jul 6, 2022 |
| Rothmund-Thomson syndrome type 2 | 1 | May 15, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 14 | Dec 5, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 7 | Dec 5, 2024 |
| SATB1-related neurodevelopmental disorder | 1 | Feb 24, 2022 |
| SCAF4-associated Neurodevelopmental disorder | 1 | Jul 6, 2022 |
| SEMA5A-associated Neurodevelopmental syndrome | 1 | Jul 6, 2022 |
| SETD2 associated neurodevelopmental disorder with multiple congenital anomalies | 1 | May 15, 2024 |
| SHANK1-related Neurodevelopmental Disorder | 1 | Nov 22, 2023 |
| SHANK2-related Complex neurodevelopmental disorder | 1 | Jul 6, 2022 |
| SHORT syndrome | 2 | Jul 6, 2022 |
| SIM1-associated metabolic syndrome | 3 | Sep 15, 2023 |
| SIM1-related obesity | 1 | May 1, 2023 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 9 | Dec 5, 2024 |
| SLC6A20-related Neurodevelopmental Disorder | 1 | Dec 5, 2024 |
| SNX25-related autism spectrum disorder | 1 | Jul 6, 2022 |
| SORBS1-associated Hirschsprung disease | 1 | Feb 24, 2022 |
| SRGAP2-associated Neurodevelopmental Disorder | 1 | Jul 6, 2022 |
| SRRM2-related Neurodevelopmental disorder | 1 | Jul 6, 2022 |
| SSR4-congenital disorder of glycosylation | 1 | Jul 6, 2022 |
| STARD9-related Intellectual Disability | 1 | Feb 17, 2022 |
| STING-associated vasculopathy with onset in infancy | 1 | Nov 21, 2021 |
| SYNCRIP-related Intellectual Disability | 1 | Dec 5, 2024 |
| Saethre-Chotzen syndrome | 1 | May 5, 2022 |
| Saldino-Mainzer syndrome | 1 | Nov 22, 2023 |
| Salla disease | 3 | Feb 24, 2022 |
| Sandhoff disease | 1 | Dec 5, 2024 |
| Sarcotubular myopathy | 4 | Sep 15, 2023 |
| SchC6pf-Schulz-Passarge syndrome | 1 | Sep 15, 2023 |
| Schaaf-Yang syndrome | 18 | Dec 5, 2024 |
| Schinzel-Giedion syndrome | 2 | Jul 6, 2022 |
| Schizencephaly | 4 | Dec 5, 2024 |
| Schuurs-Hoeijmakers syndrome | 8 | Nov 22, 2023 |
| Schwartz-Jampel syndrome type 1 | 2 | Aug 17, 2022 |
| Seckel syndrome 1 | 1 | May 17, 2021 |
| Seckel syndrome 5 | 1 | Feb 24, 2022 |
| See cases | 100 | Jul 6, 2022 |
| Seizure | 1 | Sep 3, 2020 |
| Seizures, benign familial infantile, 2 | 2 | Feb 24, 2022 |
| Seizures, benign familial infantile, 3 | 5 | Dec 5, 2024 |
| Seizures, benign familial infantile, 5 | 11 | Dec 5, 2024 |
| Seizures, benign familial neonatal, 1 | 2 | Jul 6, 2022 |
| Seizures, benign familial neonatal, 2 | 4 | Dec 5, 2024 |
| Seizures-scoliosis-macrocephaly syndrome | 1 | Aug 30, 2021 |
| Sengers syndrome | 1 | Dec 5, 2024 |
| Senior-Loken syndrome 6 | 21 | Sep 15, 2023 |
| Senior-Loken syndrome 7 | 2 | Nov 22, 2023 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 4 | Dec 5, 2024 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 1 | May 17, 2021 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 | Feb 17, 2022 |
| Severe combined immunodeficiency due to LAT deficiency | 1 | Feb 17, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 3 | Jul 6, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 10 | Nov 22, 2023 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Aug 17, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jul 22, 2021 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 | May 17, 2021 |
| Severe myoclonic epilepsy in infancy | 12 | Dec 5, 2024 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Aug 17, 2022 |
| Severe neurodegenerative syndrome with lipodystrophy | 2 | Dec 5, 2022 |
| Shashi-Pena syndrome | 4 | Feb 24, 2022 |
| Short QT syndrome 7 | 1 | Nov 22, 2023 |
| Short QT syndrome type 1 | 7 | Dec 5, 2024 |
| Short QT syndrome type 2 | 9 | May 15, 2024 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 3 | Dec 5, 2024 |
| Short stature due to partial GHR deficiency | 1 | Nov 22, 2023 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 2 | Sep 15, 2023 |
| Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | 2 | Aug 17, 2022 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 7 | Nov 22, 2023 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Nov 22, 2023 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 1 | Aug 30, 2021 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 13 | Sep 15, 2023 |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 1 | Jul 6, 2022 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | Aug 17, 2022 |
| Short-rib thoracic dysplasia 15 with polydactyly | 2 | Sep 15, 2023 |
| Short-rib thoracic dysplasia 20 with polydactyly | 1 | Feb 17, 2022 |
| Shprintzen-Goldberg syndrome | 4 | Dec 5, 2024 |
| Shukla-Vernon syndrome | 2 | Dec 5, 2024 |
| Shwachman-Diamond syndrome 1 | 1 | Feb 17, 2022 |
| Sialuria | 1 | Dec 5, 2024 |
| Sick sinus syndrome 1 | 1 | Sep 15, 2023 |
| Sick sinus syndrome 2, autosomal dominant | 4 | Nov 22, 2023 |
| Sick sinus syndrome 3, susceptibility to | 1 | Sep 15, 2023 |
| Sifrim-Hitz-Weiss syndrome | 3 | Dec 5, 2024 |
| Singleton-Merten syndrome 1 | 2 | May 15, 2024 |
| Singleton-Merten syndrome 2 | 1 | Feb 17, 2022 |
| Sitosterolemia 1 | 13 | Sep 15, 2023 |
| Sitosterolemia 2 | 17 | Sep 15, 2023 |
| Skraban-Deardorff syndrome | 4 | Dec 5, 2024 |
| Smith-Lemli-Opitz syndrome | 7 | Dec 5, 2024 |
| Smith-Magenis syndrome | 13 | Dec 5, 2024 |
| Snijders Blok-Campeau syndrome | 13 | Dec 5, 2024 |
| Snijders blok-fisher syndrome | 2 | Jul 6, 2022 |
| Sotos syndrome | 13 | Dec 5, 2024 |
| Spastic paraplegia 52, autosomal recessive | 1 | May 17, 2021 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 11 | Dec 5, 2024 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Feb 17, 2022 |
| Specific granule deficiency 1 | 1 | May 5, 2022 |
| Specific language impairment 5 | 2 | Nov 22, 2023 |
| Spermatogenic failure 18 | 1 | Feb 17, 2022 |
| Spermatogenic failure 58 | 2 | May 1, 2023 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 7 | Dec 5, 2024 |
| Spinocerebellar ataxia 47 | 1 | Dec 5, 2024 |
| Spinocerebellar ataxia type 13 | 1 | May 5, 2022 |
| Spinocerebellar ataxia type 15/16 | 3 | Dec 5, 2024 |
| Spinocerebellar ataxia type 19/22 | 1 | Feb 24, 2022 |
| Spinocerebellar ataxia type 26 | 1 | Jul 6, 2022 |
| Spinocerebellar ataxia type 29 | 7 | Dec 5, 2024 |
| Spinocerebellar ataxia type 35 | 1 | Nov 22, 2023 |
| Spinocerebellar ataxia type 40 | 1 | Aug 17, 2022 |
| Spinocerebellar ataxia type 42 | 2 | Dec 5, 2024 |
| Spinocerebellar ataxia type 5 | 2 | Aug 17, 2022 |
| Spinocerebellar ataxia type 6 | 2 | Sep 15, 2023 |
| Spinocerebellar ataxia, autosomal recessive 22 | 2 | Aug 30, 2021 |
| Spinocerebellar ataxia, autosomal recessive 24 | 1 | Nov 22, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 1 | Sep 15, 2023 |
| Spondylocarpotarsal synostosis syndrome | 2 | Nov 22, 2023 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 1 | May 5, 2022 |
| Spondyloepiphyseal dysplasia, Kimberley type | 2 | May 15, 2024 |
| Squalene synthase deficiency | 1 | Feb 5, 2021 |
| Stankiewicz-Isidor syndrome | 2 | Dec 5, 2024 |
| Stickler syndrome type 2 | 3 | May 15, 2024 |
| Stiff skin syndrome | 1 | Feb 24, 2022 |
| Structural brain anomalies with impaired intellectual development and craniosynostosis | 2 | Feb 24, 2022 |
| Succinate-semialdehyde dehydrogenase deficiency | 5 | Dec 5, 2024 |
| Sucrase-isomaltase deficiency | 1 | May 17, 2021 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 | Dec 5, 2024 |
| Supravalvar aortic stenosis | 1 | May 5, 2022 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | May 15, 2024 |
| Susceptibility to mononeuropathy of the median nerve, mild | 1 | Sep 15, 2023 |
| Syndromic X-linked intellectual disability 34 | 2 | Feb 17, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 5 | Dec 5, 2024 |
| Syndromic X-linked intellectual disability Lubs type | 2 | Aug 17, 2022 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Jul 22, 2021 |
| Syndromic intellectual disability | 1 | May 5, 2022 |
| Systemic lupus erythematosus | 1 | Feb 17, 2022 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 1 | Feb 24, 2022 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Feb 24, 2022 |
| TAF1C-Associated Neurodevelopmental Disorder | 1 | Jul 6, 2022 |
| TAOK1-related neurodevelopmental disorder | 1 | May 5, 2022 |
| TCF12-related craniosynostosis | 2 | Aug 17, 2022 |
| TCF7L2-related Intellectual disability | 1 | Jul 6, 2022 |
| TCF7L2-relatedIntellectual disability | 1 | Dec 5, 2024 |
| TFE3-Associated Neurodevelopmental disorder | 1 | May 17, 2021 |
| TMEM63B-related Neurodevelopmental disorder | 1 | May 5, 2022 |
| TNK2-associated Epilepsy syndrome | 1 | Aug 17, 2022 |
| TOP2B-related neurodevelopmental disorder | 1 | Aug 17, 2022 |
| TRPM3-associated epilepsy syndrome | 1 | Jul 6, 2022 |
| TRPM3-related Intellectual Disability and Epilepsy | 1 | Feb 24, 2022 |
| TSPOAP1-related Dystonia | 2 | Feb 24, 2022 |
| TWIST1-related craniosynostosis | 1 | May 5, 2022 |
| TXNRD2-associated Cardiomyopathy | 1 | Jul 6, 2022 |
| Tangier disease | 19 | Sep 15, 2023 |
| Tatton-Brown-Rahman overgrowth syndrome | 6 | Dec 5, 2024 |
| Tay-Sachs disease | 1 | May 5, 2022 |
| Teebi hypertelorism syndrome 1 | 1 | May 5, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Dec 5, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Aug 17, 2022 |
| Temple-Baraitser syndrome | 2 | Feb 17, 2022 |
| Temtamy syndrome | 1 | Feb 5, 2021 |
| Tenorio syndrome | 2 | May 5, 2022 |
| Tetralogy of Fallot | 4 | Dec 5, 2024 |
| Thiel-Behnke corneal dystrophy | 1 | May 5, 2022 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Nov 22, 2023 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Nov 22, 2023 |
| Thyroid dyshormonogenesis 6 | 1 | May 5, 2022 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Jul 22, 2021 |
| Timothy syndrome | 9 | Dec 5, 2024 |
| Tolchin-Le Caignec syndrome | 1 | Sep 15, 2023 |
| Tooth agenesis, selective, 4 | 1 | Sep 15, 2023 |
| Torsion dystonia 6 | 1 | Jul 6, 2022 |
| Townes-Brocks syndrome 1 | 1 | Jul 22, 2021 |
| Treacher Collins syndrome 1 | 1 | May 15, 2024 |
| Trichohepatoenteric syndrome 1 | 1 | Feb 5, 2021 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 2 | May 5, 2022 |
| Trigonocephaly 2 | 1 | Dec 5, 2024 |
| Troyer syndrome | 2 | May 5, 2022 |
| Tuberous sclerosis 1 | 2 | Feb 17, 2022 |
| Tuberous sclerosis 2 | 10 | Dec 5, 2024 |
| Turnpenny-fry syndrome | 1 | May 5, 2022 |
| Type 1 diabetes mellitus 2 | 3 | May 1, 2023 |
| Type 1 diabetes mellitus 20 | 7 | Sep 15, 2023 |
| Type 2 diabetes mellitus | 65 | Nov 22, 2023 |
| Type II complement component 8 deficiency | 1 | Jul 6, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 2 | Aug 14, 2024 |
| UBN2 associated Autism susceptibility | 1 | Feb 28, 2022 |
| UBR4-associated neurodevelopmental syndrome | 2 | Jul 6, 2022 |
| UNC13A-related Neurodevelopmental and Movement disorder | 3 | Dec 5, 2024 |
| UNC13B-related seizure disorder | 1 | Aug 17, 2022 |
| Ullrich congenital muscular dystrophy 2 | 2 | Nov 22, 2023 |
| Unverricht-Lundborg syndrome | 1 | Feb 24, 2022 |
| Usher syndrome type 1 | 2 | Feb 24, 2022 |
| Usher syndrome type 1D | 2 | Feb 24, 2022 |
| Usher syndrome type 2A | 1 | Feb 5, 2021 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | May 17, 2021 |
| VRK2-related Epilepsy syndrome | 1 | Dec 5, 2024 |
| Van der Woude syndrome 2 | 1 | May 15, 2024 |
| Variegate porphyria | 1 | Nov 22, 2023 |
| Vasculitis due to ADA2 deficiency | 1 | Jul 22, 2021 |
| Velocardiofacial syndrome | 2 | May 15, 2024 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 3 | Nov 22, 2023 |
| Ventricular fibrillation, paroxysmal familial, type 1 | 2 | Sep 15, 2023 |
| Ventricular septal defect 3 | 2 | Dec 5, 2024 |
| Ventriculomegaly and arthrogryposis | 7 | Nov 22, 2023 |
| Ventriculomegaly-cystic kidney disease | 1 | May 5, 2022 |
| Ververi-Brady syndrome | 2 | May 15, 2024 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jul 6, 2022 |
| Vesicoureteral reflux 3 | 1 | Feb 24, 2022 |
| Vici syndrome | 4 | Feb 24, 2022 |
| Visceral myopathy 2 | 1 | Nov 22, 2023 |
| Vissers-Bodmer syndrome | 1 | Jul 6, 2022 |
| Vitamin D-dependent rickets type II with alopecia | 1 | Feb 24, 2022 |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 1 | May 5, 2022 |
| Waardenburg syndrome type 1 | 1 | Jul 6, 2022 |
| Waardenburg syndrome type 2E | 1 | May 17, 2021 |
| Waardenburg syndrome type 3 | 1 | Jul 6, 2022 |
| Warburg micro syndrome 2 | 1 | Dec 5, 2024 |
| Weaver syndrome | 1 | May 17, 2021 |
| Webb-Dattani syndrome | 2 | Feb 17, 2022 |
| Weill-Marchesani 4 syndrome, recessive | 1 | Nov 22, 2023 |
| Weill-Marchesani syndrome 2, dominant | 1 | Feb 24, 2022 |
| Weill-Marchesani syndrome 3 | 1 | Nov 22, 2023 |
| Weiss-Kruszka syndrome | 8 | Dec 5, 2024 |
| Wiedemann-Steiner syndrome | 15 | Dec 5, 2024 |
| Wilson-Turner syndrome | 3 | Aug 17, 2022 |
| Wiskott-Aldrich syndrome 2 | 1 | Sep 15, 2023 |
| Wolcott-Rallison dysplasia | 6 | Sep 15, 2023 |
| Wolf-Hirschhorn like syndrome | 2 | Feb 17, 2022 |
| Wolfram syndrome 1 | 16 | Sep 15, 2023 |
| Wolfram-like syndrome | 7 | Dec 5, 2022 |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 1 | Sep 15, 2023 |
| X-linked Opitz G/BBB syndrome | 5 | Dec 5, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Feb 17, 2022 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Nov 22, 2023 |
| X-linked intellectual disability Cabezas type | 2 | May 1, 2023 |
| X-linked intellectual disability with marfanoid habitus | 1 | Jul 6, 2022 |
| X-linked intellectual disability, Cantagrel type | 7 | Dec 5, 2024 |
| X-linked intellectual disability, Stocco dos Santos type | 4 | Aug 17, 2022 |
| X-linked intellectual disability, van Esch type | 1 | Jul 6, 2022 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Feb 24, 2022 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Aug 17, 2022 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Aug 17, 2022 |
| X-linked progressive cerebellar ataxia | 1 | Nov 22, 2023 |
| Xq25 microduplication syndrome | 1 | Aug 17, 2022 |
| ZTTK syndrome | 7 | Dec 5, 2024 |
| Zimmermann-Laband syndrome 1 | 1 | Feb 17, 2022 |
| Zimmermann-laband syndrome 3 | 2 | May 5, 2022 |
| myoclonic epilepsy | 2 | Feb 17, 2022 |
| not provided | 273 | Dec 9, 2024 |
| not specified | 1 | Mar 22, 2023 |
| von Willebrand disease type 1 | 1 | Nov 22, 2023 |
| von Willebrand disease type 2 | 2 | Nov 22, 2023 |
| von Willebrand disease type 3 | 1 | Nov 22, 2023 |
