Синдром Секеля
ORPHA:808· ICD-10 Q87.1· Seckel syndrome
Визначення(English summary)
A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
- Поширеність
- 1-5 / 10 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal