congenital disorder of glycosylation Ix

Term ID

DOID:0080573

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. https://www.ncbi.nlm.nih.gov/pubmed/23842455

References

• OMIM:615597
• ORDO:370924

Ontology

Human Disease   ( DOID:0080573 )