(Q66084926)
English
congenital muscular dystrophy-dystroglycanopathy type A11
A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
- MDDGA11
- Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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Identifiers
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1 reference