Term Name: | congenital disorder of glycosylation Ix |
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Synonyms: | congenital disorder of glycosylation 1x |
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. |
Ontology: | Human Disease [DOID:0080573] ( DOID:0080573 ) |