Distal deletion 6p syndrome
ORPHA:96125· ICD-10 Q93.5
Definition
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal