Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ORPHA:98791· ICD-10 D56.0
Definition
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal