Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11(来自ICD-11)

别称:

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A11

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related

Mddga11

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Medical Symptom

Gene & Mutation

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Congenital Muscular Dystrophy-Dystroglycanopathy Type A11, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a11, is related to muscular dystrophy-dystroglycanopathy , type a, 11 and congenital muscular dystrophy-dystroglycanopathy type a. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 is B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2). Affiliated tissues include eye and brain, and related phenotype is Increased shRNA abundance (Z-score > 2).

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