8p23.1 microdeletion syndrome
ORPHA:251071· ICD-10 Q93.5
Definition
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal