congenital disorder of glycosylation type I SSR4-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iy SCTID:733115009 MEDGEN:860832 MONDO:0010490 CDG-Iy SSR4-congenital disorder of glycosylation Orphanet:370927 congenital disorder of glycosylation, type Iy OMIM:300934 congenital disorder of glycosylation, type Iy, X-linked recessive CDG1Y congenital disorder of glycosylation type 1y carbohydrate deficient glycoprotein syndrome type Iy SSR4-CDG DOID:0080574 CDG syndrome type Iy UMLS:C4012395 GARD:0012405 A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28). CDG Iy CDGIy congenital disorder of glycosylation type Iy multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental anomaly of metabolic origin disorder of protein N-glycosylation obsolete_SSR4-CDG