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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