Tubulinopathy-associated dysgyria
ORPHA: 467166
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 Tubulinopathy-associated dysgyria, sourced from HPO and Orphanet clinical annotations.
MicrocephalyGlobal developmental delayAbnormal corpus callosum morphologyCerebellar vermis hypoplasiaAbnormal brainstem morphologyAbnormal thalamus morphologyHypoplasia of the ponsAbnormality of the internal capsuleDysgyriaStrabismusOculomotor apraxiaPachygyriaVentriculomegalyAttention deficit hyperactivity disorderAbnormal involuntary eye movementsAgyriaAbnormal morphology of the olfactory bulbMacrocephalyAtaxiaHypotoniaBilateral ptosisGeneralized non-motor (absence) seizureInfantile spasmsStartle-induced seizure
Classification & Codes
Orphanet Code
ORPHA:467166Tubulinopathy-associated dysgyria
| Orphanet | ORPHA:467166 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO