Traits

Traits linked to CLTRN

collectrin, amino acid transport regulator

The Human Phenotype Ontology links 30 traits to CLTRN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Very often (80–99%)
Ataxia	Very often (80–99%)
Can't control feelings	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Hallucinations	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Migraine	Very often (80–99%)
Tremor	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of vision	Often (30–79%)
Cross-eyed	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Photosensitive skin	Very often (80–99%)
Abnormal blistering of the skin	Sometimes (5–29%)
Irregular hyperpigmentation	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary color	Very often (80–99%)
Neutral hyperaminoaciduria	Very often (80–99%)
Elevated urinary indican level	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Inflamed gums	Sometimes (5–29%)
Inflammation of the tongue	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Skin rash	Often (30–79%)
Brain inflammation	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

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

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