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	Cât de frecvent apare
Global developmental delay	Foarte des (80–99%)
Delayed speech and language development	Des (30–79%)
Intellectual disability	Des (30–79%)
Motor delay	Des (30–79%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Chiari type I malformation	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Dilated third ventricle	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Frequent temper tantrums	Uneori (5–29%)
Head-banging	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Leukodystrophy	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Big calvaria	Des (30–79%)
High forehead	Des (30–79%)
High, narrow palate	Des (30–79%)
Depressed nasal bridge	Uneori (5–29%)
Large forehead	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Triangular face	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Anterior polar cataract	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Severe farsightedness	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Low-set ears	Des (30–79%)
Recurrent middle ear infection	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Overweight	Des (30–79%)
Faltering weight	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of peripheral lung artery	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Chronic constipation	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Double-Jointed	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Accumulation of acid in body due to kidney problem	Uneori (5–29%)
Metabolic acidosis	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Rectal bleeding	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Dropped arches	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Caesarean section	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent respiratory infections	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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