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Summary Literature (0)
DOID:0050560 - Walker-Warburg syndrome

Disease Ontology Definition:A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.

Synonyms: cerebroocular dysplasia-muscular dystrophy syndrome, HARD syndrome

Xenbase Genes : pomt1, pomgnt1, fkrp, fktn, pomgnt2, pomk, pomt2, b4gat1, rxylt1, b3galnt2, crppa, dag1, large1, col4a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019523 - obsolete Walker-Warburg syndrome

MIM:
MIM:236670 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
MIM:253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a)