Visualize Submit Comment
Metadata
ID DOID:0080572
Name congenital disorder of glycosylation Iw
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
Xrefs

MIM:615596

ORDO:370921

Subsets

DO_rare_slim

Synonyms

congenital disorder of glycosylation 1w [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type I

Add an item to the term tracker