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CAMOS syndrome

Disease definition

A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

ORPHA:83472

Classification level: Disorder
  • Synonym(s):
    • Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
    • SCAR5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.1
  • OMIM: 606937
  • UMLS: C1847114
  • MeSH: -
  • GARD: 9977
  • MedDRA: -

Detailed information

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