Traits

Traits linked to KLHL24

kelch like family member 24

The Human Phenotype Ontology links 19 traits to KLHL24, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased myocardial glycogen content	Always
Asymmetric septal hypertrophy	Often (30–79%)
Left ventricular outflow tract obstruction	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Palpitations	Often (30–79%)
Reduced left ventricular endsystolic diameter	Often (30–79%)
Systolic anterior motion of the mitral valve	Often (30–79%)
Sudden cardiac death	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Always
Patchy lightened skin	Always
Skin degeneration	Always
Hair loss	Often (30–79%)
Overgrowth and curving of toenails	Often (30–79%)
Poor toenail formation	Not recorded
Sparse body hair	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Cardiomyocyte hypertrophy	Always

Abnormality of head or neck

Trait	How often it is seen
Absence of scalp hair	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Diffuse palmoplantar hyperkeratosis	Always

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to KLHL24 and how often each is seen. Find out more at hpo.jax.org.

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