Traits

Traits linked to CNTN1

contactin 1

The Human Phenotype Ontology links 26 traits to CNTN1, 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
Jaw contracture	Sometimes (5–29%)
High palate	Not recorded
High, narrow palate	Not recorded
Long, narrow head	Not recorded
Oval face	Not recorded
Scaphocephaly	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle weakness	Always
Decreased lung function due to weak breathing muscles	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Permanent flexion of the finger or toe	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always
Premature birth	Always
Fetal akinesia sequence	Not recorded
High levels of amniotic fluid	Not recorded

Abnormality of limbs

Trait	How often it is seen
Joint contracture of the hand	Not recorded
Long slender fingers	Not recorded
Overlapping fingers	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Akinesia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)
Poor suck	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of lung artery	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Not recorded

Growth abnormality

Trait	How often it is seen
Small for gestational age	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 CNTN1 and how often each is seen. Find out more at hpo.jax.org.

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