X-linked alpha-thalassemia-intellectual disability syndrome
ORPHA:847· ICD-10 D56.0
Definition
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal