Mental Retardation, Autosomal Dominant 21

Alternative Names

  • MRD21
  • Intellectual Disability Feeding Difficulties Developmental Delay Microcephaly Syndrome

Associated Genes

CCCTC-Binding Factor
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615502

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16q22.1

Description

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA). [From Orphanet]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615502.1LebanonMale Microcephaly; Autistic behavior; Delay...NM_006565.4:c.1670_1674delGTTCTHeterozygousAutosomal, DominantNair et al. 2018
615502.2United Arab EmiratesFemaleNoYes Intrauterine growth retardation; Failure...NM_006565.4:c.615_618delHeterozygousBastaki et al. 2017 Mutation identified ...
615502.3United Arab EmiratesMaleNoYes Global developmental delay; Failure to t...NM_006565.4:c.1699C>THeterozygousSaleh et al. 2021 de novo mutation
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