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cardiomyopathy-hypotonia-lactic acidosis syndrome

MeSH: C563665ORPHA: 91130

Contents

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

Overview

defect in gene encoding a mitochondrial membrane transporter

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 cardiomyopathy-hypotonia-lactic acidosis syndrome, sourced from HPO and Orphanet clinical annotations.

HypotoniaHypertrophic cardiomyopathyMetabolic acidosisIncreased circulating lactate concentrationLactic acidosisAbnormality of the mitochondrionCyanosisFailure to thriveMyopathyLow-output congestive heart failureRespiratory distress

Classification & Codes

MeSH Code

C563665

Orphanet Code

ORPHA:91130
cardiomyopathy-hypotonia-lactic acidosis syndrome
MeSHC563665
OrphanetORPHA:91130
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO