PCNA-related progressive neurodegenerative photosensitivy syndrome
ORPHA: 438134
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 PCNA-related progressive neurodegenerative photosensitivy syndrome, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentPhotophobiaCutaneous photosensitivityGlobal developmental delayGait ataxiaNeurodegenerationTelangiectasia of the skinMild intellectual disabilityShort statureRetinal telangiectasiaAbsent pubertal growth spurtMicrocephalyCongenital diaphragmatic herniaCerebellar atrophyNeoplasmSevere intellectual disability
Classification & Codes
Orphanet Code
ORPHA:438134PCNA-related progressive neurodegenerative photosensitivy syndrome
| Orphanet | ORPHA:438134 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO