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Echinobase
Summary Literature (0)
DOID:0111230 - congenital muscular dystrophy-dystroglycanopathy type A11

Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.

Synonyms: MDDGA11, Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11,

Echinobase Genes : b3galnt2


OMIM:
MIM:615181 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11; mddga11

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee