(Q66084938)
English
congenital muscular dystrophy-dystroglycanopathy type A5
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
- MDDGA5
- Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
Statements
1 reference
Identifiers
1 reference
1 reference