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Echinobase
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

Echinobase Genes : pomgnt1, pomt1, pomt2


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, Ontobee
Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a)