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Trichomegaly - retina pigmentary degeneration - dwarfism

Synonym(s) Long eyelashes - intellectual disability
Oliver-McFarlane syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
ICD-10 -
MeSH -
MedDRA -


This syndrome is characterised by growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive.

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Clinical genetics review
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