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Summary Literature (0)
DOID:0111241 - congenital muscular dystrophy-dystroglycanopathy type A5

Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.

Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5, MDDGA5, Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital muscular dystrophy-dystroglycanopathy type A (is_a)