pontocerebellar hypoplasia type 4
MeSH: C536716ORPHA: 166063
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 pontocerebellar hypoplasia type 4, sourced from HPO and Orphanet clinical annotations.
SeizureHypertoniaMyoclonusPolyhydramniosAbnormal facial shapeHypoplasia of the brainstemArthrogryposis multiplex congenitaCentral apneaRespiratory failure requiring assisted ventilationOlivopontocerebellar hypoplasiaPrimary microcephalySloping foreheadMicrognathiaMidface retrusion
Classification & Codes
MeSH Code
C536716Orphanet Code
ORPHA:166063pontocerebellar hypoplasia type 4
| MeSH | C536716 |
| Orphanet | ORPHA:166063 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO