congenital muscular dystrophy-dystroglycanopathy type A

Summary

DOID:0111229 - congenital muscular dystrophy-dystroglycanopathy type A

Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.

Synonyms: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, klissencephaly type 2 with muscular and ocular involvement, MDDGA

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fktn

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), muscular dystrophy-dystroglycanopathy (is_a)