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Hypomyelination-congenital cataract syndrome

Disease definition

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

ORPHA:85163

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G37.8
  • OMIM: 610532
  • UMLS: -
  • MeSH: -
  • GARD: 11980
  • MedDRA: -

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