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X-linked complicated spastic paraplegia type 1

ORPHA:306617

Definition

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.

Inheritance
X-linked recessive
Age of onset
Antenatal, Infancy, Neonatal