/SSR4-congenital disorder of glycosylation

SSR4-congenital disorder of glycosylation

Rare Disease

MONDO:0010490

Also Known As

CDG syndrome type IyCDG-IyCDG1YSSR4-CDGSSR4-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Iycongenital disorder of glycosylation type 1ycongenital disorder of glycosylation type Iycongenital disorder of glycosylation, type Iy, X-linked recessiveCDG 1YCDG IyCDGIycongenital disorder of glycosylation, type Iy

Definition

A form of congenital disorders of N-linked glycosylation 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. The disease is caused by mutations in the gene SSR4(Xq28).