Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum. Disease data Classification Disease Synonyms Congenital disorder of glycosylation due to PIGG deficiency Wrodzone zaburzenie glikolizacji z powodu niedoboru PIGG PIGG-CDG ORPHA code 488635 OMIM code 616917 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