Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11, MDDGA11, Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related

Echinobase Genes : b3galnt2


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

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)