Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition SSR4-CDG is 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 <i> SSR4</i> (Xq28). Disease data Classification Disease Synonyms CDG syndrome type Iy CDG1Y CDG-Iy Wrodzone zaburzenie glikozylacji typu 1y Wrodzone zaburzenie glikozylacji typu Iy Zespół CDG typu Iy Zespół obniżonej glikozylacji glikoprotein typu Iy CDG-Iy CDG1Y Carbohydrate deficient glycoprotein syndrome type Iy Congenital disorder of glycosylation type 1y Congenital disorder of glycosylation type Iy ORPHA code 370927 OMIM code 300934 ICD10 code E77.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl