SLC35A2-congenital disorder of glycosylation
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).
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
CDG syndrome type IIm
exact
CDG-IIm
exact
CDG2M
exact
EIEE22
related
SLC35A2-CDG
exact
SLC35A2-congenital disorder of glycosylation
exact
congenital disorder of glycosylation type 2m
exact
congenital disorder of glycosylation type IIm
exact
congenital disorder of glycosylation, type IIm
related
congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant
exact
epileptic encephalopathy, early infantile, 22
related
epileptic encephalopathy, early infantile, 22; EIEE22
related
SPCC1795.03