has material basis in germline mutation in MAN1B1 congenital disorder of glycosylation disorder of protein N-glycosylation MAN1B1-congenital disorder of glycosylation https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg https://www.malacards.org/card/man1b1_congenital_disorder_of_glycosylation GARD:0012417 MAN1B1-CDG MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). SCTID:733450008 Orphanet:397941 congenital disorder of glycosylation type II due to MAN1B1 deficiency UMLS:C4518783 MAN1B1-congenital disorder of glycosylation congenital disorder of glycosylation type 2 due to MAN1B1 deficiency intellectual disability-truncal obesity syndrome MONDO:0018349 MEDGEN:1375785 carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency