congenital disorder of glycosylation Ic

Summary

DOID:0080555 - congenital disorder of glycosylation Ic

Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.

Synonyms: congenital disorder of glycosylation 1c,

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

: alg6

OMIM:

MIM:603147 - congenital disorder of glycosylation, type ic; cdg1c

MIM:603147 - congenital disorder of glycosylation, type ic; cdg1c

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 disorder of glycosylation type I (is_a)