L1 syndrome
ORPHA: 2466
Overview
medical condition
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
Orphanet Code
ORPHA:2466L1 syndrome
| 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