infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
ORPHA: 263410
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 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayAbnormal basal ganglia morphologySmall basal gangliaRestlessnessIrritabilitySeizureAtaxiaDysarthriaConfusionDystoniaHyperreflexiaTetraparesisDrowsinessPoor speechInfantile encephalopathyLoss of consciousnessAbnormal brainstem MRI signal intensityInappropriate cryingDownslanted palpebral fissuresRespiratory insufficiencyStatus epilepticusSpastic tetraplegiaFunctional motor deficitFloppy infantInfantile spasms
Classification & Codes
Orphanet Code
ORPHA:263410infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
| Orphanet | ORPHA:263410 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO