(Q66084934)
English
congenital muscular dystrophy-dystroglycanopathy type A13
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
- Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
- MDDGA13
- Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
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Identifiers
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1 reference