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isolated microphthalmia 8

ORPHA: 2542

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has material basis in homozygous mutation in the ALDH1A3 gene on chromosome 15q26

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:2542
isolated microphthalmia 8
OrphanetORPHA:2542
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO