oculorenocerebellar syndrome
MeSH: C537739ORPHA: 2715
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 oculorenocerebellar syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityRenal insufficiencyProteinuriaStrabismusOptic atrophyHypotoniaChoreoathetosisProfound intellectual disabilityAbnormal retinal pigmentationAbnormal retinal vascular morphologyGlomerulopathyWide mouthNarrow faceMandibular prognathiaMacrotiaVisual impairmentSpasticitySpastic diplegiaHyperreflexiaSandal gapShort statureAplasia/Hypoplasia of the cerebellumMalar prominenceHypoplasia of the zygomatic boneMask-like faciesCataractHypopigmented skin patchesScoliosisLarge earlobe
Classification & Codes
MeSH Code
C537739Orphanet Code
ORPHA:2715oculorenocerebellar syndrome
| MeSH | C537739 |
| Orphanet | ORPHA:2715 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO