congenital disorder of glycosylation Iw

Summary

DOID:0080572 - congenital disorder of glycosylation Iw

Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.

Synonyms: congenital disorder of glycosylation 1w

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

: stt3a

MIM:

MIM:615596 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE; CDG1WAR

MIM:615596 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE; CDG1WAR

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)