Traits

Traits linked to TTI1

TELO2 interacting protein 1

The Human Phenotype Ontology links 32 traits to TTI1, 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
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Delayed ability to walk	Very often (80–99%)
Epilepsy	Often (30–79%)
Chorea	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Paroxysmal bursts of laughter	Sometimes (5–29%)
Self-mutilation	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Drooling	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Coxa vara	Sometimes (5–29%)
External tibial torsion	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)
Talipes equinovalgus	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Facial telangiectasia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Premature graying of hair	Sometimes (5–29%)

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 TTI1 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