Traits

Traits linked to CNTNAP1

contactin associated protein 1

The Human Phenotype Ontology links 54 traits to CNTNAP1, 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
Diminished deep tendon reflex	Very often (80–99%)
Absent reflexes	Often (30–79%)
Decreased motor nerve conduction velocity	Often (30–79%)
Poor eye contact	Often (30–79%)
Epilepsy	Rarely (1–4%)
Babinski sign	Not recorded
CNS hypomyelination	Not recorded
Decreased reflex response	Not recorded
Degeneration of cerebellum	Not recorded
Degeneration of cerebrum	Not recorded
Dystonia	Not recorded
Increased reflexes	Not recorded
Paralysis	Not recorded
Small basal ganglia	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Very often (80–99%)
Decreased facial expressions	Often (30–79%)
Facial diplegia	Often (30–79%)
Full lips	Often (30–79%)
Narrow palate	Often (30–79%)
Receding chin	Often (30–79%)
Little lower jaw	Sometimes (5–29%)
Abnormally small head	Not recorded
Gum enlargement	Not recorded
High palate	Not recorded
Long, narrow head	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal arthrogryposis	Always
EMG abnormality	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Arthrogryposis multiplex congenita	Rarely (1–4%)
Flexed joint that cannot be straightened	Rarely (1–4%)
Generalized decreased muscle tone	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Limb contractures	Not recorded
Muscle degeneration	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club foot on both sides	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Abnormal feet structure	Not recorded
Hand clenching	Not recorded
Inability to straighten knee	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal akinesia sequence	Always
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Very often (80–99%)
Respiratory failure	Often (30–79%)
Respiratory function loss	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Not recorded
Oral-pharyngeal dysphagia	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded
Low-set ears	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Visual impairment	Not recorded

Growth abnormality

Trait	How often it is seen
Wasting syndrome	Not recorded

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 CNTNAP1 and how often each is seen. Find out more at hpo.jax.org.

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