has material basis in germline mutation in ALG8 congenital disorder of glycosylation type I ALG8-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ih CDG Ih MESH:C535746 OMIM:608104 CDG syndrome type Ih ALG8-CDG (CDG-Ih) GARD:0009834 CDG 1H MONDO:0011969 CDG-Ih MEDGEN:419692 congenital disorder of glycosylation type Ih congenital disorder of glycosylation, type Ih DOID:0080560 CDG1H glucosyltransferase 2 deficiency SCTID:720977000 congenital disorder of glycosylation type 1h carbohydrate deficient glycoprotein syndrome type Ih Orphanet:79325 A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. UMLS:C2931002 ALG8-CDG ALG8-congenital disorder of glycosylation disorder of protein N-glycosylation obsolete nephropathy secondary to a storage or other metabolic disease