Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, congenital disorder of glycosylation caused by mutations in the <i>COG2</i> gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI. Disease data Classification Disease Synonyms COG2-related congenital disorder of glycosylation Wrodzone zaburzenie glikozylacji związane z COG2 ORPHA code 435934 OMIM code 617395 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