Term Name: | congenital muscular dystrophy-dystroglycanopathy A7 |
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Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7, MDDGA7, Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related |
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. |
Ontology: | Human Disease [DOID:0111234] ( DOID:0111234 ) |