Traits

Traits linked to DOCK7

dedicator of cytokinesis 7

The Human Phenotype Ontology links 45 traits to DOCK7, 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
Epileptic encephalopathy	Always
Global developmental delay	Always
Absent speech development	Often (30–79%)
Autism	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Hypoplasia of the pons	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Infantile spasms	Often (30–79%)
Intellectual disability	Often (30–79%)
Jerking	Often (30–79%)
Multifocal epileptiform discharges	Often (30–79%)
Occipital cortical atrophy	Often (30–79%)
Poor eye contact	Often (30–79%)
Poor speech	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Tonic seizure	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Low frontal hairline	Always
Broad nasal tip	Often (30–79%)
Bulbous nose	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Double eyebrow	Often (30–79%)
Drooping lower lip	Often (30–79%)
Full lips	Often (30–79%)
Fullness around the eyes	Often (30–79%)
Long eyelashes	Often (30–79%)
Monobrow	Often (30–79%)
Narrow forehead	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Short philtrum	Often (30–79%)
Thick eyebrow	Often (30–79%)
Abnormal spaced incisors	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Always
Large earlobe	Sometimes (5–29%)
Prominent ear helix	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Absence of eyeballs	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Supravalvular aortic stenosis	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 DOCK7 and how often each is seen. Find out more at hpo.jax.org.

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