(Q66084932)
English
congenital muscular dystrophy-dystroglycanopathy type A3
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
- Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
- MDDGA3
Statements
1 reference
Identifiers
1 reference
1 reference