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SLC35A2-CDG

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
  • MeSH: -
  • GARD: 12403
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Guidelines

Disease review articles

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.