Traits

Traits linked to CDH2

cadherin 2

The Human Phenotype Ontology links 57 traits to CDH2, 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
Attention deficit	Always
Agenesis of corpus callosum	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Interhypothalamic adhesion	Often (30–79%)
Mild global developmental delay	Often (30–79%)
Periventricular heterotopia	Often (30–79%)
Anxiety	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Delayed fine motor development	Sometimes (5–29%)
Delayed motor skills	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Hallucinations of sound	Sometimes (5–29%)
Hand mirror movements	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Interhemispheric cyst	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Frontal bossing	Often (30–79%)
Prominent forehead	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Broad forehead	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Palpitations	Always
Left bundle branch block	Often (30–79%)
Extra heart beat	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Hole in center of heart	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Presyncope	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Ventricular tachycardia	Sometimes (5–29%)
Right ventricular dilatation	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Deeply set eye	Sometimes (5–29%)
Peters anomaly	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Thickened helices	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Short penis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Often (30–79%)
High shoulder blade	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	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 CDH2 and how often each is seen. Find out more at hpo.jax.org.

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