X-linked complicated spastic paraplegia…

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X-linked complicated spastic paraplegia type 1

ORPHA:306617Clinical subtype

Also called SPG1

What it is

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.

Key facts

Age of onset
Antenatal, Infancy, Neonatal
Inheritance
X-linked recessive
Classified as
Clinical subtype

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

L1CAMDisease-causing germline mutation(s)

Cross-references

MONDO 0017630UMLS C5779711

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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