Traits

Traits linked to CAPN15

calpain 15

The Human Phenotype Ontology links 19 traits to CAPN15, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Notched pupil	Very often (80–99%)
Abnormally small eyeball on both sides	Sometimes (5–29%)
Abnormally small eyeball on one side	Sometimes (5–29%)
Dropping of one upper eyelid	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Horseshoe kidney	Sometimes (5–29%)
Vaginal fistula	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Sometimes (5–29%)
Spinal dimple	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Often (30–79%)
Global developmental delay	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic valve has two leaflets rather than three	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the ear

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Missing part of vertebrae	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Laryngeal cleft	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Sometimes (5–29%)

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 CAPN15 and how often each is seen. Find out more at hpo.jax.org.

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