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Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

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


Disease definition

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.

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Detailed information

Clinical genetics review
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