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Start free with EleplanX-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
Common30–79%
5These 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
Cross-references
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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