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Metadata
ID DOID:0111234
Name congenital muscular dystrophy-dystroglycanopathy A7
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
https://www.ncbi.nlm.nih.gov/pubmed/22522420
Xrefs

MIM:614643

Synonyms

congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7 [EXACT]

MDDGA7 [EXACT]

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

Parent Relationships

is_a congenital muscular dystrophy-dystroglycanopathy type A

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