Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene <i>ALG3</i> (3q27.3). Disease data Classification Disease Synonyms CDG syndrome type Id CDG1D CDG-Id Niedobór mannozylotransferazy 6 Wrodzone zaburzenie glikozylacji typu 1d Wrodzone zaburzenie glikozylacji typu Id Zespół CDG typu Id Zespół obniżonej glikozylacji glikoprotein typu Id CDG-Id CDG1D Carbohydrate deficient glycoprotein syndrome type Id Congenital disorder of glycosylation type 1d Congenital disorder of glycosylation type Id Mannosyltransferase 6 deficiency ORPHA code 79321 OMIM code 601110 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