Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2585

Ataxia-pancytopenia syndrome

Also called ATXPC syndrome, Myelocerebellar disorder, SAMD9L-related ataxia-pancytopenia syndrome

Body system
Neurological diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Adolescent, Adult, Childhood
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:2585 is classified under "Neurological diseases" in the Orphanet nomenclature.

Common signs

  • Ataxia
  • Cerebellar atrophy
  • Gait disturbance
  • Unsteady gait
  • Aplasia/Hypoplasia of the cerebellum
  • Nystagmus