Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23). Disease data Classification Disease Synonyms CDG syndrome type IL CDG1L CDG-IL Zespół CDG typu IL Niedobór mannozylotransferazy 7-9 Wrodzone zaburzenie glikozylacji typu 1L Zespół obniżonej glikozylacji glikoprotein typu 1L CDG-IL CDG1L Carbohydrate deficient glycoprotein syndrome type IL Congenital disorder of glycosylation type 1L Mannosyltransferase 7-9 deficiency ORPHA code 79328 OMIM code 263210 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