complex cortical dysplasia with other brain malformations 7
ORPHA: 208444
Overview
complex cortical dysplasia with other brain malformations characterized by autosomal dominant inheritance of abnromalities in coritcal brain development that has material basis in heterozygous mutation in the TUBB2B gene on chromosome 6p25
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 7, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityGlobal developmental delayMild intellectual disabilitySpastic tetraparesisSeizureHemiparesisEEG abnormalityFunctional motor deficitHyperactive deep tendon reflexes
Classification & Codes
Orphanet Code
ORPHA:208444complex cortical dysplasia with other brain malformations 7
| Orphanet | ORPHA:208444 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO