L1 syndrome
MeSH: C536029ORPHA: 2466
Overview
hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with L1 syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityHand clenchingSpastic paraplegiaAgenesis of corpus callosumGait disturbanceHyperreflexiaVentriculomegalyAphasiaClinodactyly of the 5th fingerShort statureHemiplegia/hemiparesisCamptodactyly of finger
Classification & Codes
MeSH Code
C536029Orphanet Code
ORPHA:2466L1 syndrome
| MeSH | C536029 |
| Orphanet | ORPHA:2466 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO