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Intellectual disability, autosomal recessive 33(MRT33)

MedGen UID:: 482169
•Concept ID:: C3280539
•: Mental or Behavioral Dysfunction

Synonym:	MRT33

Monarch Initiative:	MONDO:0013703
OMIM®:	614341

Clinical features

From HPO

Syndactyly

MedGen UID:: 52619
•Concept ID:: C0039075
•: Congenital Abnormality

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".

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Short toe

MedGen UID:: 322858
•Concept ID:: C1836195
•: Finding

A toe that appears disproportionately short compared to the foot.

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Intellectual disability, moderate

MedGen UID:: 7680
•Concept ID:: C0026351
•: Mental or Behavioral Dysfunction

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.

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Abnormal facial shape

MedGen UID:: 98409
•Concept ID:: C0424503
•: Finding

An abnormal morphology (form) of the face or its components.

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Abnormality of head or neck
- Abnormal facial shape
Abnormality of limbs
- Short toe
- Syndactyly
Abnormality of the nervous system
- Intellectual disability, moderate

Professional guidelines

PubMed

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.

Innes AM, McInnes BL, Dyment DA
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):387-397. doi: 10.1002/ajmg.c.31661. PMID: 30580484

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636

See all (4)

Recent clinical studies

Etiology

Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.

Masri AT, Oweis L, Ali M, Hamamy H
Clin Neurol Neurosurg 2023 Jul;230:107799. Epub 2023 May 22 doi: 10.1016/j.clineuro.2023.107799. PMID: 37236004

Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.

Ricciardello A, Tomaiuolo P, Persico AM
Am J Med Genet A 2021 Jul;185(7):2211-2233. Epub 2021 May 5 doi: 10.1002/ajmg.a.62222. PMID: 33949759 Free PMC Article

Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.

Mutlu-Albayrak H, Kırat E, Gürbüz G
Neurogenetics 2020 Jan;21(1):59-66. Epub 2019 Nov 19 doi: 10.1007/s10048-019-00597-y. PMID: 31741144

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.

Hijazi L, Kashgari A, Alfadhel M
J Child Neurol 2018 Nov;33(13):820-824. Epub 2018 Aug 20 doi: 10.1177/0883073818790851. PMID: 30124108

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM
Hum Mutat 2015 Oct;36(10):1015-9. Epub 2015 Aug 17 doi: 10.1002/humu.22843. PMID: 26220823 Free PMC Article

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Diagnosis

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP
Mol Psychiatry 2024 Apr;29(4):974-981. Epub 2024 Jan 11 doi: 10.1038/s41380-023-02385-5. PMID: 38200289 Free PMC Article

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A
Clin Genet 2021 Nov;100(5):573-600. Epub 2021 Aug 19 doi: 10.1111/cge.14044. PMID: 34374989

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.

Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937 Free PMC Article

Nijmegen breakage syndrome.

van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C
J Med Genet 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. PMID: 8929954 Free PMC Article

See all (31)

Therapy

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.

Mercimek-Mahmutoglu S, Salomons GS, Chan A
Pediatr Neurol 2014 Jul;51(1):133-7. Epub 2014 Feb 21 doi: 10.1016/j.pediatrneurol.2014.02.011. PMID: 24766785

See all (1)

Prognosis

PIGN encephalopathy: Characterizing the epileptology.

Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG
Epilepsia 2022 Apr;63(4):974-991. Epub 2022 Feb 18 doi: 10.1111/epi.17173. PMID: 35179230

Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.

Ricciardello A, Tomaiuolo P, Persico AM
Am J Med Genet A 2021 Jul;185(7):2211-2233. Epub 2021 May 5 doi: 10.1002/ajmg.a.62222. PMID: 33949759 Free PMC Article

A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.

Zaka A, Shahzad S, Rao HZ, Hashim Y, Basit S
Am J Med Genet A 2021 Feb;185(2):355-361. Epub 2020 Nov 3 doi: 10.1002/ajmg.a.61952. PMID: 33141514

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815 Free PMC Article

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO
Mol Med Rep 2016 Jul;14(1):33-40. Epub 2016 May 4 doi: 10.3892/mmr.2016.5209. PMID: 27150940 Free PMC Article

See all (12)

Clinical prediction guides

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

PIGN encephalopathy: Characterizing the epileptology.

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D
Sleep Breath 2022 Jun;26(2):815-821. Epub 2021 Aug 9 doi: 10.1007/s11325-021-02463-4. PMID: 34368942

Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.

Ricciardello A, Tomaiuolo P, Persico AM
Am J Med Genet A 2021 Jul;185(7):2211-2233. Epub 2021 May 5 doi: 10.1002/ajmg.a.62222. PMID: 33949759 Free PMC Article

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Alghamdi M, Bashiri FA, Abdelhakim M, Adly N, Jamjoom DZ, Sumaily KM, Alghanem B, Arold ST
Clin Genet 2021 Jan;99(1):99-110. Epub 2020 Sep 16 doi: 10.1111/cge.13843. PMID: 32888189 Free PMC Article

See all (18)

MedGen

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Intellectual disability, autosomal recessive 33(MRT33)

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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