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Echinobase
Summary Literature (0)
DOID:0111234 - congenital muscular dystrophy-dystroglycanopathy A7

Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.

Synonyms: MDDGA7, Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7

Echinobase Genes : crppa


MIM:
MIM:614643 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7; mddga7

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)