Traits

Traits linked to CNTNAP2

contactin associated protein 2

The Human Phenotype Ontology links 112 traits to CNTNAP2, 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
Focal impaired awareness seizure	Always
Grand mal seizures	Always
Intellectual disability	Always
Receptive language delay	Always
Schizophrenia	Always
Seizure affecting one half of brain	Always
Abnormal neuron shape	Very often (80–99%)
Abnormality of neuronal migration	Very often (80–99%)
Attention deficit	Very often (80–99%)
Delayed ability to walk	Very often (80–99%)
Delayed motor skills	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Ataxia	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Decreased reflex response	Often (30–79%)
EEG with generalized epileptiform discharges	Often (30–79%)
EEG with generalized polyspikes	Often (30–79%)
EEG with generalized slow activity	Often (30–79%)
Focal aware seizure	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Interictal epileptiform activity	Often (30–79%)
Mental deterioration	Often (30–79%)
Motor delay	Often (30–79%)
Poor eye contact	Often (30–79%)
Poor speech	Often (30–79%)
Progressive language deterioration	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Repetitive movements	Often (30–79%)
Small cerebellum	Often (30–79%)
Abnormal temper tantrums	Sometimes (5–29%)
Absent reflexes	Sometimes (5–29%)
Absent speech development	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Cerebellar vermis atrophy	Sometimes (5–29%)
Cerebral palsy	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
EEG with focal spikes	Sometimes (5–29%)
Focal cortical dysplasia	Sometimes (5–29%)
Focal impaired awareness emotional seizure with fear/anxiety/panic	Sometimes (5–29%)
Generalized convulsive status epilepticus	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Low frustration tolerance	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Reduced cerebral white matter volume	Sometimes (5–29%)
Self-mutilation	Sometimes (5–29%)
Skin-picking	Sometimes (5–29%)
Stereotypical hand wringing	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Thick corpus callosum	Rarely (1–4%)
Diminished deep tendon reflex	Not recorded
Generalized-onset seizure	Not recorded
Language impairment	Not recorded
Poor social interactions	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Abnormally small head	Often (30–79%)
Full lips	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Big lower jaw	Rarely (1–4%)
Broad forehead	Rarely (1–4%)
Bulbous nose	Rarely (1–4%)
Coarse facial features	Rarely (1–4%)
Decreased size of tooth	Rarely (1–4%)
Eye folds	Rarely (1–4%)
High palate	Rarely (1–4%)
Long eyelashes	Rarely (1–4%)
Low frontal hairline	Rarely (1–4%)
Low hanging columella	Rarely (1–4%)
Monobrow	Rarely (1–4%)
Prominent forehead	Rarely (1–4%)
Protruding tongue	Rarely (1–4%)
Short columella	Rarely (1–4%)
Short philtrum	Rarely (1–4%)
Tented mouth	Rarely (1–4%)
Thin red part of the upper lip	Rarely (1–4%)
Upward slanting of the opening between the eyelids	Rarely (1–4%)
Widely spaced teeth	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Sometimes (5–29%)
Preaxial polydactyly	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large earlobe	Rarely (1–4%)
Large ears	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Intermittent overbreathing	Sometimes (5–29%)
Rapid breathing	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Intraventricular hemorrhage	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	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 CNTNAP2 and how often each is seen. Find out more at hpo.jax.org.

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