Joubert syndrome 31
ORPHA: 475
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 Joubert syndrome 31, sourced from HPO and Orphanet clinical annotations.
Oculomotor apraxiaIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayCerebellar vermis hypoplasiaApneaAbnormal pattern of respirationEpisodic tachypneaLong faceNystagmusGait disturbanceBiparietal narrowingFeeding difficulties in infancyOrofacial cleftHydrocephalusLow-set earsProminent nasal bridgeAnteverted naresStrabismusPtosisIris colobomaAbnormality of the hypothalamus-pituitary axisHand polydactylySeizureTremorSitus inversus totalisFoot polydactylyEncephalocelePolymicrogyriaAganglionic megacolonAbnormality of neuronal migrationHighly arched eyebrowScoliosisAbnormal form of the vertebral bodiesAplasia/Hypoplasia of the corpus callosumAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:475Joubert syndrome 31
| Orphanet | ORPHA:475 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO