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X-linked myotubular myopathy-abnormal genitalia syndrome

MeSH: C564561ORPHA: 456328

Contents

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

Overview

human disease

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 X-linked myotubular myopathy-abnormal genitalia syndrome, sourced from HPO and Orphanet clinical annotations.

Generalized hypotoniaCryptorchidismBifid scrotumMicropenisGlanular hypospadiasPenoscrotal hypospadiasPolyhydramniosRespiratory insufficiencyPenile hypospadiasBlind vaginaHigh palateRetrognathiaThin ribsJoint hypermobilityFeeding difficulties

Classification & Codes

MeSH Code

C564561

Orphanet Code

ORPHA:456328
X-linked myotubular myopathy-abnormal genitalia syndrome
MeSHC564561
OrphanetORPHA:456328
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO