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Metadata
ID	DOID:0080573
Name	congenital disorder of glycosylation Ix
Definition	A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. https://www.ncbi.nlm.nih.gov/pubmed/23842455
Xrefs	MIM:615597 ORDO:370924
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1x [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I