SLC35A2‑CDG
Engelsk navn: SLC35A2-CDG
Engelske synonym: CDG syndrome type IIm,CDG-IIm,CDG2M,Congenital disorder of glycosylation type 2m,Congenital disorder of glycosylation type IIm
Definisjon
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).
Fra Orphanet
ORPHA: 356961
Klassifiseringsnivå: Disorder
ICD-10: E77.8
Mer informasjon
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