Синдром інтелектуальної недостатності-спастичності-ектродактилії
ORPHA:1891· ICD-10 Q87.2· Intellectual disability-spasticity-ectrodactyly syndrome
Визначення(English summary)
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy, Neonatal