| 3-methylglutaconic aciduria, type VIIB | 2 | Dec 20, 2023 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Apr 28, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Dec 20, 2023 |
| ALG11-congenital disorder of glycosylation | 1 | Dec 20, 2023 |
| Adams-Oliver syndrome 1 | 2 | Dec 20, 2023 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Nov 28, 2023 |
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 | Apr 28, 2024 |
| Aniridia 1 | 1 | Oct 20, 2023 |
| Arthrogryposis multiplex congenita 6 | 1 | Nov 28, 2023 |
| Arthrogryposis, distal, type 2B2 | 1 | Nov 28, 2023 |
| Ataxia-telangiectasia syndrome | 2 | Nov 28, 2023 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Nov 28, 2023 |
| Au-Kline syndrome | 1 | Dec 20, 2023 |
| Autism spectrum disorder due to AUTS2 deficiency | 2 | Apr 28, 2024 |
| Autosomal dominant Parkinson disease 8 | 1 | Apr 28, 2024 |
| Autosomal dominant Robinow syndrome 1 | 1 | Oct 20, 2023 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Oct 20, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Nov 28, 2023 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Apr 28, 2024 |
| Autosomal dominant nonsyndromic hearing loss 33 | 1 | Apr 28, 2024 |
| Autosomal recessive nonsyndromic hearing loss 104 | 2 | Dec 20, 2023 |
| Autosomal recessive omodysplasia | 1 | Dec 20, 2023 |
| Autosomal recessive spinocerebellar ataxia 16 | 2 | Oct 20, 2023 |
| Basal ganglia calcification, idiopathic, 6 | 2 | Apr 28, 2024 |
| Basal ganglia calcification, idiopathic, childhood-onset | 3 | Dec 20, 2023 |
| Beck-Fahrner syndrome | 1 | Oct 20, 2023 |
| Benign hereditary chorea | 2 | Oct 20, 2023 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Oct 20, 2023 |
| Bohring-Opitz syndrome | 1 | Oct 20, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Nov 28, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Nov 28, 2023 |
| Brittle cornea syndrome 1 | 2 | Apr 28, 2024 |
| Brody myopathy | 1 | Oct 20, 2023 |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 | Nov 28, 2023 |
| CHARGE syndrome | 1 | Apr 28, 2024 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Oct 20, 2023 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Dec 20, 2023 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 3 | Apr 28, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Oct 20, 2023 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Oct 20, 2023 |
| Charcot-Marie-Tooth disease axonal type 2N | 2 | Oct 20, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Oct 20, 2023 |
| Charcot-Marie-Tooth disease type 2I | 1 | Nov 28, 2023 |
| Charcot-Marie-Tooth disease type 4C | 1 | Nov 28, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Apr 28, 2024 |
| Charlevoix-Saguenay spastic ataxia | 2 | Oct 20, 2023 |
| Chorea-acanthocytosis | 2 | Oct 20, 2023 |
| Chromosome 15q13.3 microdeletion syndrome | 1 | Dec 20, 2023 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Oct 20, 2023 |
| Coffin-Siris syndrome 1 | 3 | Nov 28, 2023 |
| Cohen syndrome | 3 | Oct 20, 2023 |
| Colorectal cancer | 1 | Nov 28, 2023 |
| Cone monochromatism | 1 | Oct 20, 2023 |
| Congenital disorder of deglycosylation 2 | 1 | Oct 20, 2023 |
| Congenital heart defects, multiple types, 4 | 1 | May 30, 2023 |
| Congenital myotonia, autosomal recessive form | 2 | Nov 28, 2023 |
| Craniofrontonasal syndrome | 1 | Nov 28, 2023 |
| Curry-Hall syndrome | 1 | Apr 28, 2024 |
| Cystinuria | 1 | Nov 28, 2023 |
| Deeah syndrome | 1 | Apr 28, 2024 |
| Deficiency of cytochrome-b5 reductase | 1 | Oct 20, 2023 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Nov 28, 2023 |
| Developmental and epileptic encephalopathy 100 | 1 | Oct 20, 2023 |
| Developmental and epileptic encephalopathy, 2 | 1 | Nov 28, 2023 |
| Developmental and epileptic encephalopathy, 26 | 1 | Nov 28, 2023 |
| Developmental and epileptic encephalopathy, 42 | 1 | Apr 28, 2024 |
| Developmental and epileptic encephalopathy, 46 | 1 | Oct 20, 2023 |
| Developmental and epileptic encephalopathy, 62 | 1 | Dec 20, 2023 |
| Developmental and epileptic encephalopathy, 7 | 1 | Dec 20, 2023 |
| Developmental delay with variable neurologic and brain abnormalities | 1 | Jan 22, 2025 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Oct 20, 2023 |
| Diets-Jongmans syndrome | 1 | Nov 28, 2023 |
| Dystonia 12 | 1 | Nov 28, 2023 |
| Dystonia 30 | 2 | Nov 28, 2023 |
| Dystonia 31 | 3 | Nov 28, 2023 |
| Dystonia 5 | 2 | Oct 20, 2023 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Dec 20, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Apr 28, 2024 |
| Episodic ataxia type 2 | 2 | Oct 20, 2023 |
| Episodic kinesigenic dyskinesia 1 | 1 | Oct 20, 2023 |
| Exostoses, multiple, type 1 | 3 | Oct 20, 2023 |
| Exostoses, multiple, type 2 | 1 | Oct 20, 2023 |
| Familial Mediterranean fever | 1 | Apr 28, 2024 |
| Familial adenomatous polyposis 1 | 1 | Nov 28, 2023 |
| Familial cancer of breast | 2 | Dec 20, 2023 |
| Familial temporal lobe epilepsy 7 | 1 | Dec 20, 2023 |
| Fatal familial insomnia | 2 | Dec 20, 2023 |
| Febrile seizures, familial, 4 | 3 | Apr 28, 2024 |
| Floating-Harbor syndrome | 1 | Oct 20, 2023 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | Nov 28, 2023 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Dec 20, 2023 |
| Global developmental delay with speech and behavioral abnormalities | 1 | Apr 28, 2024 |
| Hereditary spastic paraplegia 10 | 1 | Oct 20, 2023 |
| Hereditary spastic paraplegia 11 | 1 | Oct 20, 2023 |
| Hereditary spastic paraplegia 4 | 2 | Oct 20, 2023 |
| Hereditary spastic paraplegia 42 | 1 | Oct 20, 2023 |
| Hereditary spastic paraplegia 5A | 1 | Dec 20, 2023 |
| Hereditary spastic paraplegia 7 | 3 | Nov 28, 2023 |
| Hypercholesterolemia, familial, 1 | 4 | Nov 28, 2023 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Dec 20, 2023 |
| Hyperostosis cranialis interna | 1 | Oct 20, 2023 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Nov 28, 2023 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 | Oct 20, 2023 |
| Hypomyelinating leukodystrophy 2 | 1 | Apr 28, 2024 |
| Hypomyelinating leukodystrophy 6 | 1 | Nov 28, 2023 |
| Indifference to pain, congenital, autosomal dominant | 1 | Dec 20, 2023 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Dec 20, 2023 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Apr 28, 2024 |
| Intellectual developmental disorder, X-linked 108 | 1 | Apr 28, 2024 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Apr 28, 2024 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Dec 20, 2023 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Apr 28, 2024 |
| Intellectual disability, X-linked 102 | 1 | Dec 20, 2023 |
| Intellectual disability, autosomal dominant 1 | 3 | Apr 28, 2024 |
| Intellectual disability, autosomal dominant 30 | 3 | Apr 28, 2024 |
| Intellectual disability, autosomal dominant 34 | 1 | Dec 20, 2023 |
| Intellectual disability, autosomal dominant 45 | 1 | Oct 20, 2023 |
| Intellectual disability, autosomal dominant 51 | 2 | Dec 20, 2023 |
| Intellectual disability, autosomal dominant 57 | 1 | Dec 20, 2023 |
| Intellectual disability, autosomal dominant 9 | 1 | Oct 20, 2023 |
| Intellectual disability, autosomal recessive 13 | 2 | Oct 20, 2023 |
| Intellectual disability, autosomal recessive 65 | 1 | Oct 20, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Nov 28, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Nov 28, 2023 |
| Intellectual disability-strabismus syndrome | 1 | Nov 28, 2023 |
| Isolated optic nerve hypoplasia | 1 | Apr 28, 2024 |
| Joubert syndrome 1 | 3 | Nov 28, 2023 |
| KBG syndrome | 1 | Oct 20, 2023 |
| Kleefstra syndrome 2 | 1 | Apr 28, 2024 |
| Landau-Kleffner syndrome | 1 | Feb 23, 2023 |
| Leber optic atrophy, susceptibility to | 1 | Oct 20, 2023 |
| Legius syndrome | 1 | Apr 28, 2024 |
| Leigh syndrome | 1 | Nov 28, 2023 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Oct 20, 2023 |
| Loeys-Dietz syndrome 1 | 1 | Apr 28, 2024 |
| MASA syndrome | 1 | Apr 28, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Nov 28, 2023 |
| Meckel syndrome, type 1 | 1 | Nov 28, 2023 |
| Menke-Hennekam syndrome 1 | 1 | Dec 20, 2023 |
| Metachromatic leukodystrophy | 1 | Oct 20, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Dec 20, 2023 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 1 | Oct 20, 2023 |
| Migraine, familial hemiplegic, 2 | 1 | Dec 20, 2023 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Apr 28, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 28 | 1 | Dec 20, 2023 |
| Moyamoya disease 5 | 1 | Dec 20, 2023 |
| Mucopolysaccharidosis, MPS-III-D | 1 | Oct 20, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 | Dec 20, 2023 |
| Multiple synostoses syndrome 3 | 1 | Feb 2, 2023 |
| Myopia 27 | 1 | Apr 28, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Dec 20, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Oct 20, 2023 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2 | Dec 20, 2023 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Oct 20, 2023 |
| Neurofibromatosis, type 1 | 1 | Apr 28, 2024 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Dec 20, 2023 |
| Nizon-Isidor syndrome | 1 | Nov 28, 2023 |
| O'Donnell-Luria-Rodan syndrome | 1 | Oct 20, 2023 |
| Ocular cystinosis | 1 | Dec 20, 2023 |
| Oculocerebrofacial syndrome, Kaufman type | 2 | Apr 28, 2024 |
| Oculocutaneous albinism type 1B | 3 | Apr 28, 2024 |
| Odontochondrodysplasia 2 with hearing loss and diabetes | 1 | Oct 20, 2023 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 28, 2023 |
| Orofaciodigital syndrome I | 1 | Nov 28, 2023 |
| Orofaciodigital syndrome type 6 | 1 | Dec 20, 2023 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Apr 28, 2024 |
| Paragangliomas 3 | 1 | Nov 28, 2023 |
| Paragangliomas 4 | 2 | Apr 28, 2024 |
| Pilarowski-Bjornsson syndrome | 1 | Oct 20, 2023 |
| Pituitary hormone deficiency, combined, 2 | 1 | Apr 28, 2024 |
| Pontocerebellar hypoplasia type 1B | 1 | Nov 28, 2023 |
| Pontocerebellar hypoplasia type 3 | 2 | Oct 20, 2023 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Oct 20, 2023 |
| Progressive myoclonic epilepsy type 7 | 1 | Oct 20, 2023 |
| Progressive sclerosing poliodystrophy | 1 | Oct 20, 2023 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Oct 20, 2023 |
| Radio-Tartaglia syndrome | 1 | Oct 20, 2023 |
| Revesz syndrome | 1 | Oct 20, 2023 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Dec 20, 2023 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Oct 20, 2023 |
| Schaaf-Yang syndrome | 1 | Apr 28, 2024 |
| Schwartz-Jampel syndrome type 1 | 4 | Apr 28, 2024 |
| Seizures, benign familial infantile, 5 | 1 | Apr 28, 2024 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Oct 20, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Oct 20, 2023 |
| Skin/hair/eye pigmentation, variation in, 2 | 1 | Oct 20, 2023 |
| Smith-Lemli-Opitz syndrome | 1 | Nov 28, 2023 |
| Spinocerebellar ataxia 49 | 1 | Feb 15, 2023 |
| Spinocerebellar ataxia type 13 | 1 | Oct 20, 2023 |
| Spinocerebellar ataxia type 14 | 1 | Oct 20, 2023 |
| Spinocerebellar ataxia type 19/22 | 1 | Feb 15, 2023 |
| Spinocerebellar ataxia type 21 | 1 | Dec 20, 2023 |
| Spinocerebellar ataxia type 42 | 1 | Feb 15, 2023 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 | Nov 28, 2023 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Nov 28, 2023 |
| Thyroid cancer, nonmedullary, 5 | 1 | Apr 28, 2024 |
| Torsion dystonia 6 | 1 | Oct 20, 2023 |
| Treacher Collins syndrome 1 | 2 | Dec 20, 2023 |
| Tuberous sclerosis 1 | 1 | Oct 20, 2023 |
| Tuberous sclerosis 2 | 1 | Oct 20, 2023 |
| Turnpenny-fry syndrome | 2 | Apr 28, 2024 |
| Tyrosinemia type I | 1 | Jul 18, 2023 |
| Van der Woude syndrome 2 | 1 | Apr 28, 2024 |
| Ververi-Brady syndrome | 2 | Nov 28, 2023 |
| Vissers-Bodmer syndrome | 1 | Oct 20, 2023 |
| Waardenburg syndrome type 4A | 1 | Oct 20, 2023 |
| Weill-Marchesani syndrome 2, dominant | 1 | Oct 20, 2023 |
| Wiedemann-Steiner syndrome | 2 | Apr 28, 2024 |
| Xeroderma pigmentosum, group C | 1 | Apr 28, 2024 |
| ZTTK syndrome | 3 | Apr 28, 2024 |
