Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles. Disease data Classification Disease Synonyms CDG syndrome type IIL Wrodzone zaburzenia glikozylacji typu 2l Wrodzone zaburzenia glikozylacji typu IIl CDG-IIL CDG2L Congenital disorder of glycosylation type 2l Congenital disorder of glycosylation type IIL ORPHA code 464443 OMIM code 614576 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