Term Name: | congenital muscular dystrophy-dystroglycanopathy type A10 |
---|---|
Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10, MDDGA10, Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. |
Ontology: | Human Disease [DOID:0111239] ( DOID:0111239 ) |