SLC35A2-CDG
Alternate names[edit | edit source]
CDG syndrome type IIm; CDG-IIm; CDG2M; Congenital disorder of glycosylation type 2m; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation, type IIm ; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22
Definition[edit | edit source]
A rare, 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).
NIH genetic and rare disease info[edit source]
SLC35A2-CDG is a rare disease.
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