oculocerebral hypopigmentation syndrome of Preus
ORPHA: 2720
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 oculocerebral hypopigmentation syndrome of Preus, sourced from HPO and Orphanet clinical annotations.
Abnormal renal tubule morphologyHigh palateHydrocephalusHearing impairmentCataractPhotophobiaNystagmusOcular albinismArachnodactylyIntellectual disabilitySeizureAtaxiaGlobal developmental delayHypertoniaAbnormality of neutrophilsHypochromic anemiaAbnormal brainstem morphologyAbnormal hip bone morphologyShort statureReduced bone mineral densityAplasia/Hypoplasia of the cerebellumGeneralized hypopigmentationIris hypopigmentationAbnormal diencephalon morphologyAbnormality of immune system physiologyWhite hair
Classification & Codes
Orphanet Code
ORPHA:2720oculocerebral hypopigmentation syndrome of Preus
| Orphanet | ORPHA:2720 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO