Congenital dyserythropoietic anemia type I
ORPHA:98869· ICD-10 D64.4
Definition
A form of congenital dyserythropoietic anemia (CDA) characterized by moderate to severe anemia, often macrocytic, occasionally associated with congenital malformations, primarily affecting the distal extremities.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal