congenital disorder of glycosylation type II SLC35A2-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iim congenital disorder of glycosylation type IIm MONDO:0010478 Orphanet:356961 CDG syndrome type IIm SLC35A2-congenital disorder of glycosylation SLC35A2-CDG epileptic encephalopathy, early infantile, 22; EIEE22 CDG2M EIEE22 congenital disorder of glycosylation type 2m congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant CDG-IIm OMIM:300896 MEDGEN:813018 congenital disorder of glycosylation, type IIm GARD:0012403 epileptic encephalopathy, early infantile, 22 UMLS:C3806688 SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). DOID:0070265 developmental anomaly of metabolic origin disorder of multiple glycosylation obsolete_SLC35A2-CDG