Muscular Dystrophy-Dystroglycanopathy , Type a, 2 (MDDGA2)

Muscular Dystrophy-Dystroglycanopathy , Type a, 2(来自ICD-11)

别称:

Muscular Dystrophy-Dystroglycanopathy , Type A2

Mddga2

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related

Dystrophy, Muscular, Dystroglycanopathy , Type A2

Muscle-Eye-Brain Disease Pomt2-Related

Walker-Warburg Syndrome Pomt2-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Muscular Dystrophy-Dystroglycanopathy , Type a, 2, also known as muscular dystrophy-dystroglycanopathy , type a2, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include eye and brain, and related phenotypes are encephalocele and hydrocephalus

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