Х-зчеплена ускладнена спастична параплегія, тип 1
ORPHA:306617· X-linked complicated spastic paraplegia type 1
Визначення(English summary)
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.
- Успадкування
- X-linked recessive
- Вік початку
- Antenatal, Infancy, Neonatal