nephronophthisis

ORPHA: 655

Overview

congenital disorder of urinary system

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 nephronophthisis, sourced from HPO and Orphanet clinical annotations.

Renal insufficiencyAnemiaAbnormal retinal pigmentation

Classification & Codes

Orphanet Code

ORPHA:655
nephronophthisis
OrphanetORPHA:655
Treatments0 drug(s)
Symptoms on record3 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO