Schwere kongenitale Myelofibrose-Panzytopenie-Intelligenzminderung-neurologische und ophthalmische Anomalien-Syndrom
ORPHA:675775· Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal recessive