Traits

Traits linked to CHP1

calcineurin like EF-hand protein 1

The Human Phenotype Ontology links 23 traits to CHP1, 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
Abnormal pyramidal sign	Always
Ataxia	Always
Babinski sign	Always
Hoffmann sign	Always
Increased reflexes	Always
Intellectual disability	Always
Lack of coordination of movement	Always
Cerebellar vermis atrophy	Often (30–79%)
Impaired distal vibration sensation	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Weakness of outermost muscles	Always
Delayed bone maturation	Often (30–79%)
Frequent falls	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Slow eye movements	Always
Decreased clarity of vision	Often (30–79%)
Limited extraocular movements	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Hammertoe	Always
High-arched foot	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Always

Growth abnormality

Trait	How often it is seen
Growth delay	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 CHP1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test