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CAMOS syndrome

Synonym(s) Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • G11.1
MeSH -
MedDRA -


CAMOS syndrome 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.

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Clinical genetics review
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