congenital disorder of glycosylation Ix (DOID:0080573)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1x
Alt IDs: OMIM:615597, ORDO:370924
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.