Muscular Dystrophy-Dystroglycanopathy , Type a, 13 (MDDGA13)

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OMIM 56 615287 OMIM Phenotypic Series 56 PS236670 MeSH 43 D058494

MedGen 41 C3809042 CN177021 SNOMED-CT via HPO 68 128490007 128613002 14447001 16026008 193225000 204949001 221360009 224958001 230745008 246545002 246957002 253149002 253153000 258211005 276411001 313307000 34911001 397790002 416286003 417338002 42376006 43064006 5102002 65956007 73297009 84757009 89369001 91175000 95494009 more UMLS 71 C3809042

OMIM : ⁵⁶ Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. 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 (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615287)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 13, also known as mddga13, is related to congenital muscular dystrophy-dystroglycanopathy type a13, and has symptoms including seizures and muscle spasticity. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 13 is B4GAT1 (Beta-1,4-Glucuronyltransferase 1). Affiliated tissues include eye, brain and kidney, and related phenotypes are decreased testicular size and renal cyst

UniProtKB/Swiss-Prot : ⁷³ Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Clinical features from OMIM:

615287

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