complex cortical dysplasia with other brain malformations 1
ORPHA: 300570
Overview
complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3
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 complex cortical dysplasia with other brain malformations 1, sourced from HPO and Orphanet clinical annotations.
SeizureGlobal developmental delayStrabismusAbnormality of eye movementEsotropiaNystagmusIntellectual disabilitySpasticityCerebellar hypoplasiaPartial agenesis of the corpus callosumLissencephalyBilateral ptosisHypoplasia of the corpus callosumPolymicrogyriaDelayed gross motor developmentAbnormal cerebellar vermis morphologyHypoplasia of the brainstemPoor speechExpressive language delaySpastic ataxiaInability to walkType II lissencephalyFeeding difficulties in infancyPostnatal growth retardationAxial hypotoniaSimplified gyral patternDelayed fine motor developmentSevere global developmental delayDelayed ability to sitHigh palateMacrocephalyEpicanthusMicrognathiaLow-set earsSensorineural hearing impairmentTorticollisDownslanted palpebral fissuresAbnormal saccadic eye movementsVisual lossOptic nerve hypoplasiaOculomotor apraxiaEmotional labilityMotor stereotypyShort attention spanDysarthriaSpastic diplegiaCerebellar vermis hypoplasiaDystoniaPlagiocephalyJoint hypermobilityCongenital fibrosis of extraocular musclesShort footMetatarsus adductusAbnormal basal ganglia morphologyNormal pressure hydrocephalusSpastic tetraplegiaKyphoscoliosisGenu valgumThoracic scoliosisCubitus valgusImpaired masticationFlat occiputLateral ventricle dilatationLarge basal gangliaFocal-onset seizureBilateral sensorineural hearing impairmentAbnormal thalamus morphologyPrimary microcephalyAbnormal autonomic nervous system physiologyDelayed early-childhood social milestone developmentSmall basal gangliaReduced social responsivenessDysgenesis of the hippocampusAgenesis of the anterior commissureAbnormal best corrected visual acuity testGrasp reflexHypoplasia of the olfactory bulbInsomniaSmall hand
Classification & Codes
Orphanet Code
ORPHA:300570complex cortical dysplasia with other brain malformations 1
| Orphanet | ORPHA:300570 |
| Treatments | 0 drug(s) |
| Symptoms on record | 79 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO