Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. Disease data Classification Disease Synonyms CDG syndrome type Ia CDG1A CDG-Ia Niedobór fosfomannomutazy 2 Wrodzone zaburzenie glikozylacji typu 1a Wrodzone zaburzenie glikozylacji typu Ia Zespół CDG typu Ia Zespół obniżonej glikozylacji glikoprotein typu Ia CDG-Ia CDG1A Carbohydrate deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type Ia Phosphomannomutase 2 deficiency ORPHA code 79318 OMIM code 212065 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