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Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

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.

ORPHA:3363

  • Synonym(s):
    • Long eyelashes-intellectual disability syndrome
    • Oliver-McFarlane syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 275400
  • UMLS: C1848745
  • MeSH: -
  • GARD: 5266
  • MedDRA: -

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