isolated lissencephaly type 1 without known genetic defects
ORPHA: 1084
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 isolated lissencephaly type 1 without known genetic defects, sourced from HPO and Orphanet clinical annotations.
SeizureSpasticityPachygyriaNeonatal hypotoniaVentriculomegalyProfound intellectual disabilityGray matter heterotopiaHypsarrhythmiaAxial hypotoniaSevere intellectual disabilityEEG with changes in voltageFeeding difficultiesInfantile spasmsNeurodevelopmental delayMotor seizureAgyriaEnlarged sylvian cistern
Classification & Codes
Orphanet Code
ORPHA:1084isolated lissencephaly type 1 without known genetic defects
| Orphanet | ORPHA:1084 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO