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aniridia ataxia renal agenesis psychomotor retardation

MeSH: C000598722ORPHA: 1064

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

medical condition

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 aniridia ataxia renal agenesis psychomotor retardation, sourced from HPO and Orphanet clinical annotations.

Unilateral renal agenesisAnteverted naresStrabismusTelecanthusAniridiaDevelopmental glaucomaCraniosynostosisFrontal bossingDownturned corners of mouthShort statureDepressed nasal bridgeMild global developmental delayMicrognathiaHypotoniaCommunicating hydrocephalusCorneal opacity

Classification & Codes

MeSH Code

C000598722

Orphanet Code

ORPHA:1064
aniridia ataxia renal agenesis psychomotor retardation
MeSHC000598722
OrphanetORPHA:1064
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO