Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11

Alternative Names

  • MDDGA11
  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, B3GALNT2-Related
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

615181

Gene Map Locus

1q42.3

Description

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as 'dystroglycanopathies'. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615181.1United Arab EmiratesFemaleYes Hypotonia; Microphthalmia; Macrocephaly;...NM_152490.5:c.448C>THomozygousAutosomal, RecessiveAl Dhaibani at al. 2018 Proband
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