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osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

MeSH: C535617ORPHA: 2773

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 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the eyeAbnormality of visionOptic atrophyIntellectual disabilitySeizureWormian bonesRecurrent fracturesSevere global developmental delay

Classification & Codes

MeSH Code

C535617

Orphanet Code

ORPHA:2773
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
MeSHC535617
OrphanetORPHA:2773
Treatments0 drug(s)
Symptoms on record8 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO