Traits

Traits linked to TAOK1

TAO kinase 1

The Human Phenotype Ontology links 51 traits to TAOK1, 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	Very often (80–99%)
Delayed speech and language development	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Chiari type I malformation	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Dilated third ventricle	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Frequent temper tantrums	Sometimes (5–29%)
Head-banging	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Leukodystrophy	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
High forehead	Often (30–79%)
High, narrow palate	Often (30–79%)
Depressed nasal bridge	Sometimes (5–29%)
Large forehead	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Anterior polar cataract	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Severe farsightedness	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Recurrent middle ear infection	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Overweight	Often (30–79%)
Faltering weight	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Narrowing of peripheral lung artery	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Chronic constipation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Double-Jointed	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Accumulation of acid in body due to kidney problem	Sometimes (5–29%)
Metabolic acidosis	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Rectal bleeding	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	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 TAOK1 and how often each is seen. Find out more at hpo.jax.org.

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