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Metadata
ID DOID:0111233
Name congenital muscular dystrophy-dystroglycanopathy A14
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
https://www.ncbi.nlm.nih.gov/pubmed/23768512
Xrefs

OMIM:615350

Synonyms

congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14 [EXACT]

MDDGA14 [EXACT]

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

Parent Relationships

is_a congenital muscular dystrophy-dystroglycanopathy type A

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