Traits

Traits linked to CAMTA1

calmodulin binding transcription activator 1

The Human Phenotype Ontology links 78 traits to CAMTA1, 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
Global developmental delay	Always
Hippocampal atrophy	Always
Intellectual disability, mild	Always
Delayed speech and language development	Very often (80–99%)
Unsteady walk	Very often (80–99%)
Abnormal cortical gyration	Often (30–79%)
Abnormal social behavior	Often (30–79%)
Aggressive behavior	Often (30–79%)
Ataxia	Often (30–79%)
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Focal myoclonic seizure	Often (30–79%)
Generalized myoclonic-atonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Hand tremor	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Intellectual disability	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Memory impairment	Often (30–79%)
Nonprogressive cerebellar ataxia	Often (30–79%)
Poor gross motor coordination	Often (30–79%)
Small cerebellum	Often (30–79%)
Wide based walk	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Abnormal pyramidal sign	Rarely (1–4%)
Brisk reflexes	Rarely (1–4%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Rarely (1–4%)
Intention tremor	Rarely (1–4%)
Small hippocampus	Rarely (1–4%)
More active than typical	Not recorded
Positive Romberg sign	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Very often (80–99%)
Bulbous nose	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooling	Often (30–79%)
Flared nostrils	Often (30–79%)
Full lower lip	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long eyelashes	Often (30–79%)
Long face	Often (30–79%)
Long philtrum	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Pointed chin	Often (30–79%)
Wide nose	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Fullness of eyelids	Sometimes (5–29%)
Large forehead	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Extra tooth	Rarely (1–4%)
Downturned corners of mouth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Often (30–79%)
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Deeply set eye	Often (30–79%)
Wide-set eyes	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Chronic constipation	Often (30–79%)
Constipation	Often (30–79%)
Stomach hernia	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Short ear	Sometimes (5–29%)
Low-set ears	Not recorded
Prominent ear	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hyperextensibility at elbow	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Short palm	Often (30–79%)
Webbed 2nd, 3rd and 4th toes	Often (30–79%)
Webbed skin of 2nd-3rd toes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Frontal upsweep of hair	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 CAMTA1 and how often each is seen. Find out more at hpo.jax.org.

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