has material basis in germline mutation in PMM2 skin disorder congenital disorder of glycosylation type I PMM2-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ia_2 congenital disorder of glycosylation, type Ia GARD:0009826 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. phosphomannomutase 2 deficiency carbohydrate-deficient glycoprotein syndrome, type Ia, formerly MESH:C535739 MEDGEN:138111 PMM2-CDG NCIT:C126868 Jaeken syndrome UMLS:C0349653 CDG 1A NORD:1585 PMM2-congenital disorder of glycosylation congenital disorder of glycosylation type Ia Orphanet:79318 carbohydrate-deficient glycoprotein syndrome type 1A carbohydrate-deficient glycoprotein syndrome, type Ia PMM2-CDG (CDG-Ia) congenital disorder of glycosylation type 1a carbohydrate-deficient glycoprotein syndrome type 1A (formerly) carbohydrate deficient glycoprotein syndrome type Ia CDG syndrome type Ia CDG1A MONDO:0008907 OMIM:212065 DOID:0080552 SCTID:459063003 CDG-IA disorder of protein N-glycosylation