congenital disorder of glycosylation Iw

Term ID

DOID:0080572

Synonyms

congenital disorder of glycosylation 1w

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. https://www.ncbi.nlm.nih.gov/pubmed/23842455

References

MIM:615596
ORDO:370921

Ontology

Human Disease ( DOID:0080572 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type I

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models