lissencephaly type 1 due to doublecortin gene mutation
ORPHA: 2148
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 type 1 due to doublecortin gene mutation, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorSeizureLanguage impairmentCognitive impairmentPachygyriaFlexion contractureGeneralized-onset seizureAbnormal muscle tonePoor gross motor coordinationFocal-onset seizureInfantile spasmsAkinetic mutismAgyriaCerebral palsyAgitationAutistic behaviorIrritabilityDysphagiaHypoplasia of the corpus callosumAbnormal caudate nucleus morphologyHypsarrhythmiaScoliosisAspirationSecondary microcephalyLateral ventricle dilatationFeeding difficulties in infancyDelayed myelinationDilation of Virchow-Robin spacesCerebral white matter atrophyEpileptic encephalopathy
Classification & Codes
Orphanet Code
ORPHA:2148lissencephaly type 1 due to doublecortin gene mutation
| Orphanet | ORPHA:2148 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO