Sindrome mielofibrosi congenita grave-pancitopenia-disabilità intellettiva-anomalie neurologiche e oculari
ORPHA:675775· Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
- Prevalenza
- <1 / 1 000 000
- Trasmissione
- Autosomal recessive