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Metadata
ID DOID:0111240
Name congenital muscular dystrophy-dystroglycanopathy type A2
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/15894594
Xrefs

OMIM:613150

Synonyms

congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2 [EXACT]

MDDGA2 [EXACT]

Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related [EXACT]

Parent Relationships

is_a congenital muscular dystrophy-dystroglycanopathy type A

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