Дистальна делеція 6p
ORPHA:96125· ICD-10 Q93.5· Distal deletion 6p syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable, Unknown
- Вік початку
- Antenatal, Infancy, Neonatal