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