Traits

Traits linked to SLC25A36

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The Human Phenotype Ontology links 16 traits to SLC25A36, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated serum cholesterol	Always
High blood ammonia levels	Always
Hyperinsulinemia	Always
Hypoglycemic seizures	Always
Low blood sugar	Always
Elevated circulating C-peptide concentration	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Always
Communication delay	Always
Global developmental delay	Always
Intellectual disability, mild	Always

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating thyroid-stimulating hormone concentration	Always
Underactive thyroid	Always

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always

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 SLC25A36 and how often each is seen. Find out more at hpo.jax.org.

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