pontocerebellar hypoplasia type 10
ORPHA: 411493
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 10, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentHyperreflexiaDelayed gross motor developmentDelayed fine motor developmentUnderdeveloped nasal alaeWide nasal bridgeProptosisLong eyelashesLong palpebral fissureIntellectual disabilitySeizureSpasticityGlobal developmental delayHypertoniaGeneralized hypotoniaGrowth delayPoor head controlAbnormal cerebral cortex morphologyHighly arched eyebrowSensorimotor neuropathyIrritabilityAbnormal brainstem morphologySimplified gyral patternVisual fixation instabilityStrabismusVisual impairmentOptic atrophy
Classification & Codes
Orphanet Code
ORPHA:411493pontocerebellar hypoplasia type 10
| Orphanet | ORPHA:411493 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO