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

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

: alg6

MIM:

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

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

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), congenital disorder of glycosylation type I (is_a)