Microlissencephaly
ORPHA: 1083
Overview
microcephaly combined with lissencephaly
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 Microlissencephaly, sourced from HPO and Orphanet clinical annotations.
MicrocephalyDelayed speech and language developmentGlobal developmental delayHypoplasia of the corpus callosumNeuronal loss in the cerebral cortexCerebral dysmyelinationSevere intellectual disabilityBilateral tonic-clonic seizure with generalized onsetHypertoniaLissencephalyHyperreflexiaAbnormal facial shapeVentriculomegalyCerebral cortical atrophyThick cerebral cortexCerebellar atrophyPachygyriaPneumoniaPolymicrogyriaPeriventricular heterotopiaSimplified gyral patternSubcortical heterotopia
Classification & Codes
Orphanet Code
ORPHA:1083Microlissencephaly
| Orphanet | ORPHA:1083 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO