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Metadata
ID DOID:0111232
Name congenital muscular dystrophy-dystroglycanopathy type A9
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
https://www.ncbi.nlm.nih.gov/pubmed/24052401
Xrefs

MIM:616538

Synonyms

congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9 [EXACT]

MDDGA9 [EXACT]

Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related [EXACT]

Parent Relationships

is_a congenital muscular dystrophy-dystroglycanopathy type A

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