nonprogressive cerebellar atxia with mental retardation
ORPHA: 314647
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 nonprogressive cerebellar atxia with mental retardation, sourced from HPO and Orphanet clinical annotations.
Mild intellectual disabilityGlobal developmental delayThick lower lip vermilionLong facePointed chinLong philtrumBulbous noseWide noseAnteverted naresStrabismusDeeply set eyeAggressive behaviorAutistic behaviorDelayed speech and language developmentAtaxiaDysarthriaDysmetriaNeonatal hypotoniaCerebellar hypoplasiaConstipationUnsteady gaitMemory impairmentNonprogressive cerebellar ataxiaAbnormal cortical gyrationFocal myoclonic seizureAbnormal social behaviorNarrow mouthMacrocephalyBrisk reflexesLarge foreheadIntention tremorCerebral cortical atrophyAbnormal pyramidal signMesiodensHypoplastic hippocampusPalpebral edemaShort ear
Classification & Codes
Orphanet Code
ORPHA:314647nonprogressive cerebellar atxia with mental retardation
| Orphanet | ORPHA:314647 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO