Traits

Traits linked to CA8

carbonic anhydrase 8 (inactive)

The Human Phenotype Ontology links 19 traits to CA8, 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
Ataxia	Always
Cerebellar ataxia associated with quadrupedal gait	Always
Intellectual disability, mild	Always
Abnormal gait	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormality of movement	Often (30–79%)
Cerebral palsy	Often (30–79%)
Epilepsy	Often (30–79%)
Difficulty articulating speech	Not recorded
Slurred speech	Not recorded
Tremor	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle degeneration	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	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 CA8 and how often each is seen. Find out more at hpo.jax.org.

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