Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene <i>RFT1</i> (3p21.1). Disease data Classification Disease Synonyms CDG syndrome type In CDG1N CDG-In Niedobór flipazy Man5GlcNAc2-PP-Dol Wrodzone zaburzenie glikozylacji typu 1n Wrodzone zaburzenie glikozylacji typu In Zespół CDG typu In Zespół obniżonej glikozylacji glikoprotein typu In CDG-In CDG1N Carbohydrate deficient glycoprotein syndrome type In Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type In Man5GlcNAc2-PP-Dol flippase deficiency ORPHA code 244310 OMIM code 612015 ICD10 code E77.8 ICD11 code 5C54.0 *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