has material basis in germline mutation in DPM1 congenital disorder of glycosylation type I congenital disorder of glycosylation type 1E https://github.com/monarch-initiative/mondo/issues/4069 carbohydrate-deficient glycoprotein syndrome type 1E Orphanet:79322 congenital disorder of glycosylation caused by mutation in DPM1 CDG syndrome type Ie CDG-Ie CDGIe congenital disorder of glycosylation type Ie OMIM:608799 congenital disorder of glycosylation type 1E DOID:0080557 CDG1E Dol-P-mannosyltransferase deficiency congenital disorder of glycosylation type 1e NCIT:C126871 MEDGEN:324784 congenital disorder of glycosylation, type Ie UMLS:C1837396 DPM1-CDG (CDG-Ie) GARD:0009831 CDG 1E MESH:C535743 MONDO:0012123 DPM1 congenital disorder of glycosylation The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. SCTID:725078006 carbohydrate deficient glycoprotein syndrome type Ie congenital disorder of glycosylation disorder of multiple glycosylation