Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene <i>STT3B</i> (3p24.1). Disease data Classification Disease Synonyms CDG syndrome type Ix Carbohydrate deficient glycoprotein syndrome type Ix CDG1X CDG-Ix Wrodzone zaburzenie glikozylacji typu 1x Wrodzone zaburzenie glikozylacji typu Ix Zespół CDG typu Ix CDG-Ix CDG1X Carbohydrate deficient glycoprotein syndrome type Ix Congenital disorder of glycosylation type 1x Congenital disorder of glycosylation type Ix ORPHA code 370924 OMIM code 615597 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