Features include always present findings: Cardiomyocyte hypertrophy and Increased myocardial glycogen content; and common findings: Asymmetric septal hypertrophy, Dyspnea, Systolic anterior motion of the mitral valve, and Reduced left ventricular endsystolic diameter and others. 11 total HPO annotations.

KLHL24 encodes kelch like family member 24 (600 aa). Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity. Highest expression in Ovary (27.7 TPM) and Lung (26.2 TPM).

Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies is associated with mutations in the KLHL24 gene on chromosome 3.

KLHL24 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for KLHL24 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 7 common features.