Traits

Traits linked to GJB2

gap junction protein beta 2

The Human Phenotype Ontology links 101 traits to GJB2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Absent axillary hair	Always
Absent pubic hair	Always
Cobblestone-like hyperkeratosis	Always
Decreased ability to sweat	Always
Hyperkeratosis	Always
Ichthyosis	Always
Squamous cell carcinoma	Always
Knuckle pad	Very often (80–99%)
White discoloration of nails	Very often (80–99%)
Congenital ichthyosiform erythroderma	Often (30–79%)
Follicular hyperkeratosis	Often (30–79%)
Poor nail formation	Often (30–79%)
Premature aged appearance	Often (30–79%)
Scaling skin	Often (30–79%)
Skin plaque	Often (30–79%)
Sparse hair	Often (30–79%)
Thickening of upper layer of skin	Often (30–79%)
Abnormality of the nail	Sometimes (5–29%)
Abnormality of the toenail	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Hyperkeratotic papule	Sometimes (5–29%)
Papule	Sometimes (5–29%)
Thick nail	Sometimes (5–29%)
Skin cancer	Rarely (1–4%)
Skin nodule	Rarely (1–4%)
Trichilemmoma	Rarely (1–4%)
Atypical nail growth	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Decreased size of tooth	Always
Dry eye syndrome	Always
Sparse eyebrow	Always
Sparse eyelashes	Always
Sparse scalp hair	Always
Abnormal dentition	Often (30–79%)
Hair loss on scalp from scarring condition	Often (30–79%)
Pink eye	Often (30–79%)
Absent/underdeveloped tear glands	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Inflammation of corners of the mouth	Sometimes (5–29%)
Posterior blepharitis	Sometimes (5–29%)
Abnormal facial shape	Rarely (1–4%)
Dandy-Walker malformation	Rarely (1–4%)
Inflamed gums	Rarely (1–4%)
Lip fissure	Rarely (1–4%)
Neoplasm of the tongue	Rarely (1–4%)
Prominent forehead	Rarely (1–4%)
Absent eyelashes	Not recorded
Grooved tongue	Not recorded
Ingrown eyelashes	Not recorded
Oral white patch	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal inflammation	Always
Extreme sensitivity of the eyes to light	Always
New blood vessel formation in cornea	Very often (80–99%)
Damage to outer layer of the cornea of the eye	Often (30–79%)
Limbal stem cell deficiency	Often (30–79%)
Punctate keratitis	Often (30–79%)
Visual loss	Often (30–79%)
Blindness	Not recorded
Corneal scarring	Not recorded
Corneal ulceration	Not recorded
Recurrent breakdown of clear protective layer of eye	Not recorded

Abnormality of limbs

Trait	How often it is seen
Honeycomb palmoplantar hyperkeratosis	Always
Thickening of palms and soles	Always
Thickening of the outer layer of the skin of the palms and soles	Always
Autoamputation of digits	Very often (80–99%)
Coxa valga	Rarely (1–4%)
Equinus calcaneus	Rarely (1–4%)
Inability to straighten knee	Rarely (1–4%)
Small kneecap	Rarely (1–4%)
Elbow flexion contracture	Not recorded
High-arched foot	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Red scaly skin caused by inflammatory skin disease	Always
Recurrent skin infections	Often (30–79%)
Folliculitis	Sometimes (5–29%)
Psoriasiform dermatitis	Sometimes (5–29%)
Recurrent bacterial skin infections	Sometimes (5–29%)
Recurrent Candida infection	Sometimes (5–29%)
Recurrent cutaneous fungal infections	Sometimes (5–29%)
Acne inversa	Rarely (1–4%)
Infection in blood stream	Rarely (1–4%)
Recurrent cutaneous abscess formation	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Sensorineural hearing impairment	Always
Congenital sensorineural hearing impairment	Very often (80–99%)
Prelingual sensorineural hearing impairment	Often (30–79%)
Severe sensorineural hearing impairment	Often (30–79%)
Abnormal vestibular function	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Often (30–79%)
Abnormality of the spinal cord	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Rarely (1–4%)
Peripheral neuropathy	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Delayed maturation of pubic bone	Rarely (1–4%)
Knee pain	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Growth delay as children	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Amniotic constriction ring	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Hypogonadotropic hypogonadism	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 GJB2 and how often each is seen. Find out more at hpo.jax.org.

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