lissencephaly due to LIS1 mutation
ORPHA: 95232
Overview
human disease
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 lissencephaly due to LIS1 mutation, sourced from HPO and Orphanet clinical annotations.
SeizureThick cerebral cortexInfantile spasmsProgressive microcephalyAbnormal corpus callosum morphologyPachygyriaHypoplasia of the corpus callosumVentriculomegalyCavum septum pellucidumPoor head controlTetraplegiaLanguage impairmentImpaired smooth pursuitAxial hypotoniaEEG with spike-wave complexesSevere intellectual disabilityFeeding difficultiesDilation of Virchow-Robin spacesNeurodevelopmental delayAnterior predominant thick cortex pachygyriaDelayed ability to sitAgyriaDysgyriaEpileptic encephalopathyMild intellectual disabilityNeonatal hypotoniaPolyhydramniosGeneralized myoclonic seizureOpisthotonusProfound intellectual disabilityDevelopmental regressionFocal impaired awareness seizureHypsarrhythmiaNeonatal hyperbilirubinemiaAtypical absence seizureGeneralized tonic seizureAtonic seizureFocal motor seizureEEG with changes in voltageAspiration pneumoniaPosterior predominant thick cortex pachygyriaCerebellar vermis hypoplasiaProgressive spastic quadriplegiaScoliosis
Classification & Codes
Orphanet Code
ORPHA:95232lissencephaly due to LIS1 mutation
| Orphanet | ORPHA:95232 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO