Синдром панцитопенії-затримки розвитку
ORPHA:401764· ICD-10 D61.0· Pancytopenia-developmental delay syndrome
Визначення(English summary)
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent