Traits

Traits linked to GJB4

gap junction protein beta 4

The Human Phenotype Ontology links 31 traits to GJB4, 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
Skin plaque	Always
Abnormal blistering of the skin	Very often (80–99%)
Flat, discolored area of skin	Very often (80–99%)
Hyperkeratosis	Very often (80–99%)
Hyperpigmented skin patches	Very often (80–99%)
Photosensitive skin	Very often (80–99%)
Abnormality of the hair	Often (30–79%)
Dry skin	Often (30–79%)
Hair loss	Often (30–79%)
Irregular hyperpigmentation	Often (30–79%)
Abnormality of the nail	Sometimes (5–29%)
Excessive hairiness over body	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Excessive hair growth	Not recorded

Abnormality of limbs

Trait	How often it is seen
Patchy palmoplantar hyperkeratosis	Often (30–79%)
Short fingers or toes	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Glaucoma	Often (30–79%)
Corneal opacity	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Always
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Weight loss	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)

Abnormality of the genitourinary system

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

Abnormality of the immune system

Trait	How often it is seen
Skin rash	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	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 GJB4 and how often each is seen. Find out more at hpo.jax.org.

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