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congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

ORPHA: 1875

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 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome, sourced from HPO and Orphanet clinical annotations.

Muscular dystrophyHypogonadismAbnormality of the ovaryMask-like faciesHypotoniaGait disturbanceDecreased testicular sizeStrabismusPtosisCataractKyphosisCubitus valgusWide intermamillary distanceJoint hypermobility

Classification & Codes

Orphanet Code

ORPHA:1875
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
OrphanetORPHA:1875
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO