Walker-Warburg Syndrome (WWS)

Walker-Warburg Syndrome(来自ICD-11)

别称:

Walker-Warburg Congenital Muscular Dystrophy

Hard Syndrome

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Chemke Syndrome

Wws

Muscular Dystrophy-Dystroglycanopathy [with Brain and Eye Anomalies], Type a

Muscular Dystrophy-Dystroglycanopathy , Type a

Dystrophy, Muscular, Dystroglycanopathy, Type a

Hydrocephalus, Agyria, and Retinal Dysplasia

Cod-Md Syndrome

Mddga

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Walker-Warburg Syndrome, also known as walker-warburg congenital muscular dystrophy, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type a, 8, and has symptoms including seizures An important gene associated with Walker-Warburg Syndrome is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and hydrocephalus

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