/SLC35A2-congenital disorder of glycosylation

SLC35A2-congenital disorder of glycosylation

Rare Disease

MONDO:0010478

Also Known As

CDG syndrome type IImCDG-IImCDG2MSLC35A2-CDGSLC35A2-congenital disorder of glycosylationcongenital disorder of glycosylation type 2mcongenital disorder of glycosylation type IImcongenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominantCDG IImEIEE22congenital disorder of glycosylation, type IImepileptic encephalopathy, early infantile, 22epileptic encephalopathy, early infantile, 22; EIEE22

Definition

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).