(Q66084927)
English
congenital muscular dystrophy-dystroglycanopathy type A8
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
- MDDGA8
- Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Statements
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Identifiers
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1 reference