Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the <i>PGM3</i> gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. Disease data Classification Disease Synonyms CID due to PGM3 deficiency CID spowodowany niedoborem PGM3 Wrodzone zaburzenie glikozylazji zależne od PGM3 Złożony zespół niedoboru odporności spowodowany deficytem PGM3 Combined immunodeficiency due to PGM3 deficiency PGM3-related congenital disorder of glycosylation ORPHA code 443811 OMIM code 615816 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