Muscular Dystrophy-Dystroglycanopathy , Type a, 8 (MDDGA8)

Alias:

Mddga8

Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A8

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Gtdc2-Related

Dystrophy, Muscular, Dystroglycanopathy , Type A8

Muscle-Eye-Brain Disease Gtdc2-Related

Walker-Warburg Syndrome Gtdc2-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type a, 8, also known as mddga8, is related to congenital muscular dystrophy-dystroglycanopathy type a8 and muscular dystrophy-dystroglycanopathy , type a, 7. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 8 is POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)). Affiliated tissues include eye and brain, and related phenotypes are ventriculomegaly and cerebellar hypoplasia

Related ID：

MALACARDS：MSC166

OMIM：614830

MESH：D058494