Traits

Traits linked to CDH23

cadherin related 23

The Human Phenotype Ontology links 149 traits to CDH23, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal pituitary gland morphology	Very often (80–99%)
Decreased activity of gonads	Very often (80–99%)
Decreased function of male gonad	Very often (80–99%)
Elevated circulating thyroid-stimulating hormone concentration	Very often (80–99%)
Enlarged pituitary gland	Very often (80–99%)
Enlarged thyroid gland in neck	Very often (80–99%)
Female hypogonadism	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Increased circulating cortisol level	Very often (80–99%)
Overactive thyroid	Very often (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Very often (80–99%)
Pituitary corticotropic cell adenoma	Very often (80–99%)
Adrenocorticotropic hormone deficiency	Often (30–79%)
Adrenocorticotropin deficient adrenal insufficiency	Often (30–79%)
Central adrenal insufficiency	Often (30–79%)
Decreased circulating ACTH concentration	Often (30–79%)
Enlarged adrenal glands	Often (30–79%)
Increased circulating ACTH level	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Secondary growth hormone deficiency	Often (30–79%)
Thyroid crisis	Often (30–79%)
Anterior hypopituitarism	Sometimes (5–29%)
Delayed puberty	Sometimes (5–29%)
Euthyroid hyperthyroxinemia	Sometimes (5–29%)
Growth hormone excess	Sometimes (5–29%)
Increased circulating gonadotropin level	Sometimes (5–29%)
Increased circulating prolactin concentration	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal electroretinogram	Very often (80–99%)
Blind spot	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Rod-cone dystrophy	Very often (80–99%)
Visual loss	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Abnormal visual field test	Sometimes (5–29%)
Bitemporal hemianopia	Sometimes (5–29%)
Blindness	Sometimes (5–29%)
Double vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Hemianopia	Sometimes (5–29%)
Heteronymous hemianopia	Sometimes (5–29%)
Internal ophthalmoplegia	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Sudden decrease in vision	Sometimes (5–29%)
Optic nerve compression	Rarely (1–4%)
Partial loss of field of vision	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of balance	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Can't control feelings	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Headache	Often (30–79%)
Motor delay	Often (30–79%)
Tremor	Often (30–79%)
Abducens palsy	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Fourth cranial nerve palsy	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Periodic hypokalemic paresis	Sometimes (5–29%)
Psychotic episodes	Sometimes (5–29%)
Suicidal ideation	Sometimes (5–29%)
Dementia	Rarely (1–4%)
Panic attack	Rarely (1–4%)
Paranoia	Rarely (1–4%)
Psychosis	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Very often (80–99%)
Abnormal erection	Very often (80–99%)
Abnormality of the menstrual cycle	Very often (80–99%)
Decreased female sex drive	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased fertility in males	Very often (80–99%)
Difficulty getting a full erection	Very often (80–99%)
Menstrual irregularity	Very often (80–99%)
Dyspareunia	Often (30–79%)
Abnormal libido	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Light or infrequent menstrual periods	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Often (30–79%)
Capillary fragility	Often (30–79%)
High blood pressure	Often (30–79%)
Low blood pressure	Often (30–79%)
Palpitations	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Fluid around heart	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Ventricular arrhythmia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal hair quantity	Often (30–79%)
Buffalo hump	Often (30–79%)
Excessive hairiness	Often (30–79%)
Excessive sweating	Often (30–79%)
Paleness	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Plethora	Often (30–79%)
Poor wound healing	Often (30–79%)
Stretch marks	Often (30–79%)
Thin skin	Often (30–79%)
Flushing	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fatiguable weakness of proximal limb muscles	Often (30–79%)
Muscle weakness	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Tired easily	Often (30–79%)
Wasting of muscles near the body	Often (30–79%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Death of bone due to decreased blood supply	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Decreased total eosinophil count	Often (30–79%)
Elevated white blood count	Often (30–79%)
Blood spots	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Prelingual sensorineural hearing impairment	Always
Abnormal cochlea morphology	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Abnormal vestibular function	Often (30–79%)
Dizziness	Sometimes (5–29%)
Hearing impairment	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Dark color of gums	Often (30–79%)
Moon face	Often (30–79%)
Big sella turcica	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Abdominal obesity	Often (30–79%)
Increased body weight	Often (30–79%)
Truncal obesity	Often (30–79%)
Weight loss	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High urine cortisol level	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
Impaired glucose tolerance	Often (30–79%)
Low blood potassium levels	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Often (30–79%)
Decreased immune function	Often (30–79%)
Recurrent cutaneous fungal infections	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Spontaneous milk flow from breast	Very often (80–99%)
Enlarged male breast	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Often (30–79%)
Vomiting	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Fluid accumulation in lower limbs	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 CDH23 and how often each is seen. Find out more at hpo.jax.org.

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