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Echinobase
Summary Literature (0)
DOID:0110635 - muscular dystrophy-dystroglycanopathy type B5

Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

Synonyms: FKRP-related congenital muscular dystrophy, MDC1C, MDDGB5, congenital muscular dystrophy 1C, muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 ,

Echinobase Genes :


OMIM:
MIM:606612 - muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5; mddgb5

Other Model Organisms: AGR, 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)