Traits

Traits linked to GJB6

gap junction protein beta 6

The Human Phenotype Ontology links 97 traits to GJB6, 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
Congenital ichthyosiform erythroderma	Often (30–79%)
Follicular hyperkeratosis	Often (30–79%)
Hair loss	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%)
Absent axillary hair	Sometimes (5–29%)
Absent nails	Sometimes (5–29%)
Absent pubic hair	Sometimes (5–29%)
Brittle scalp hair	Sometimes (5–29%)
Cobblestone-like hyperkeratosis	Sometimes (5–29%)
Decreased ability to sweat	Sometimes (5–29%)
Fine hair	Sometimes (5–29%)
Generalized hypotrichosis	Sometimes (5–29%)
Hyperkeratotic papule	Sometimes (5–29%)
Limited armpit hair	Sometimes (5–29%)
Loss of hair color	Sometimes (5–29%)
Patchy darkened skin	Sometimes (5–29%)
Slow-growing nails	Sometimes (5–29%)
Small nail	Sometimes (5–29%)
Sparse pubic hair	Sometimes (5–29%)
Thick nail	Sometimes (5–29%)
Thickened skin	Sometimes (5–29%)
Skin cancer	Rarely (1–4%)
Skin nodule	Rarely (1–4%)
Squamous cell carcinoma	Rarely (1–4%)
Trichilemmoma	Rarely (1–4%)
Alopecia totalis	Not recorded
Atypical nail growth	Not recorded
Brittle hair	Not recorded
Detachment of nail	Not recorded
Ectodermal dysplasia	Not recorded
Slow-growing hair	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Often (30–79%)
Dry eye syndrome	Often (30–79%)
Hair loss on scalp from scarring condition	Often (30–79%)
Pink eye	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Absent eyebrow	Sometimes (5–29%)
Absent/underdeveloped tear glands	Sometimes (5–29%)
Inflammation of corners of the mouth	Sometimes (5–29%)
Posterior blepharitis	Sometimes (5–29%)
Sparse scalp hair	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%)
Inflammation of eyelids	Not recorded

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Often (30–79%)
Thickening of the outer layer of the skin of the palms and soles	Often (30–79%)
Abnormality of the knuckle	Sometimes (5–29%)
Clubbing of fingers	Sometimes (5–29%)
Coxa valga	Rarely (1–4%)
Equinus calcaneus	Rarely (1–4%)
Inability to straighten knee	Rarely (1–4%)
Small kneecap	Rarely (1–4%)
Abnormal feet structure	Not recorded
Abnormality of the hand	Not recorded

Abnormality of the eye

Trait	How often it is seen
New blood vessel formation in cornea	Very often (80–99%)
Corneal inflammation	Often (30–79%)
Damage to outer layer of the cornea of the eye	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Limbal stem cell deficiency	Often (30–79%)
Punctate keratitis	Often (30–79%)
Visual loss	Often (30–79%)
Clouding of the lens of the eye	Not recorded
Cross-eyed	Not recorded

Abnormality of the immune system

Trait	How often it is seen
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
Prelingual sensorineural hearing impairment	Often (30–79%)
Severe sensorineural hearing impairment	Often (30–79%)
Abnormal vestibular function	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Adult onset sensorineural hearing impairment	Not recorded
Sensorineural hearing impairment	Not recorded

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Trait	How often it is seen
Neurodevelopmental delay	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Rarely (1–4%)
Peripheral neuropathy	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Growth delay as children	Sometimes (5–29%)
Short stature	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 GJB6 and how often each is seen. Find out more at hpo.jax.org.

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