(Q66084929)
English
congenital muscular dystrophy-dystroglycanopathy A14
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
- Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
- MDDGA14
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
Statements
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Identifiers
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1 reference