Traits

Traits linked to GON7

GON7 subunit of KEOPS complex

The Human Phenotype Ontology links 28 traits to GON7, 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
Cognitive impairment	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Abnormality of neuronal migration	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Aqueductal stenosis	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Abnormal dentition	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal intervertebral disk morphology	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Underdeveloped ear cartilage	Very often (80–99%)
Large ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Very often (80–99%)
Nephrotic syndrome	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Stomach hernia	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Very often (80–99%)

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 GON7 and how often each is seen. Find out more at hpo.jax.org.

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