(Q66084936)
English
congenital muscular dystrophy-dystroglycanopathy type A2
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
- Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
- MDDGA2
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Statements
1 reference
C126742
0 references
Identifiers
1 reference
1 reference