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benign Samaritan congenital myopathy

ORPHA: 324581

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 benign Samaritan congenital myopathy, sourced from HPO and Orphanet clinical annotations.

EpicanthusHypertelorismNarrow foreheadHyporeflexiaGeneralized hypotoniaThickened skinMotor delayWeak cryNarrow mouthDolichocephalyWide nasal bridgeLethargyMyopathic faciesFasciculationsAbnormal respiratory system physiologyCentrally nucleated skeletal muscle fibersProminent foreheadFrog-leg postureInternally nucleated skeletal muscle fibers

Classification & Codes

Orphanet Code

ORPHA:324581
benign Samaritan congenital myopathy
OrphanetORPHA:324581
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO