Traits

Traits linked to INTS1

integrator complex subunit 1

The Human Phenotype Ontology links 39 traits to INTS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Long, narrow head	Always
Downturned corners of mouth	Very often (80–99%)
Small retruded chin	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Bulbous nose	Often (30–79%)
Cleft lip	Often (30–79%)
Cleft palate	Often (30–79%)
Deep philtrum	Often (30–79%)
Eye folds	Often (30–79%)
Frontal bossing	Often (30–79%)
Full cheeks	Often (30–79%)
Horizontal eyebrow	Often (30–79%)
Long philtrum	Often (30–79%)
Narrow eyelid opening	Often (30–79%)
Short neck	Often (30–79%)
Short nose	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Global developmental delay	Always
Severe global developmental delay	Always
Abnormal gait	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Inability to walk	Often (30–79%)
Inferior cerebellar vermis hypoplasia	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Wide-set eyes	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Astigmatism	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Hole in the back of the eye	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Funnel chest	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Prominent ear	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Overlapping toe	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal dysplasia	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 INTS1 and how often each is seen. Find out more at hpo.jax.org.

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