congenital disorder of glycosylation Iy

Term ID

DOID:0080574

Synonyms

• congenital disorder of glycosylation 1y

Definition

A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/26264460

References

• GARD:12405
• OMIM:300934
• ORDO:370927

Ontology

Human Disease   ( DOID:0080574 )