Ernstige congenitale myelofibrose - pancytopenie - intellectuele achterstand - neurologische en oftalmische afwijkingen-syndroom
ORPHA:675775· Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
- Prevalentie
- <1 / 1 000 000
- Overerving
- Autosomal recessive