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

• OMIM:615596
• ORDO:370921

Ontology

Human Disease   ( DOID:0080572 )