cerebellar agenesis

ORPHA: 1398

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 cerebellar agenesis, sourced from HPO and Orphanet clinical annotations.

MicrocephalyMacrocephalyAbnormality of eye movementAtypical behaviorSeizureAtaxiaHypotoniaHypertoniaAbnormal speech patternAbnormality of movement

Classification & Codes

Orphanet Code

ORPHA:1398
cerebellar agenesis
OrphanetORPHA:1398
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
cerebellar agenesis | OrphanDrug