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SLC35A2-CDG

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Disease 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).

ORPHA:356961

Classification level: Disorder

Synonym(s):
  • CDG syndrome type IIm
  • CDG-IIm
  • CDG2M
  • Congenital disorder of glycosylation type 2m
  • Congenital disorder of glycosylation type IIm

Prevalence: <1 / 1 000 000

Inheritance: Unknown

Age of onset: Infancy, Neonatal

ICD-10: E77.8

ICD-11: 5C54.2

OMIM: 300896

UMLS: C3806688

GARD: 12403

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018) Polski (2024)
Detailed information
Guidelines
Clinical practice guidelines
English (2020) - Genet Med
Disease review articles
Clinical genetics review
English (2017) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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