has material basis in germline mutation in ALG9 congenital disorder of glycosylation type I ALG9-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_il congenital disorder of glycosylation, type IL ALG9-congenital disorder of glycosylation UMLS:C2931006 congenital disorder of glycosylation type 1L CDG-IL SCTID:720978005 CDG1L OMIM:608776 DOID:0080564 CDG IL MESH:C535750 CDG syndrome type IL carbohydrate deficient glycoprotein syndrome type IL mannosyltransferase 7-9 deficiency Orphanet:79328 carbohydrate deficient glycoprotein syndrome type 1L MONDO:0012117 ALG9-CDG (CDG-IL) congenital disorder of glycosylation type IL ALG9-CDG A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). GARD:0009839 MEDGEN:443955 CDG 1L disorder of protein N-glycosylation