SLC35A2-CDG

Orpha code: 356961OMIM code: 300896

Definition

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).

Disease data
Classification

Disease

Synonyms
CDG syndrome type IIm
CDG2M
CDG-IIm
Wrodzone zaburzenie glikozylacji typu 2m
Zespół CDG typu 2m
Zespół CDG typu IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
ORPHA code
356961
OMIM code
300896
ICD10 code
E77.8
ICD11 code
-

No additional description.

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