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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