Traits

Traits linked to ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

The Human Phenotype Ontology links 98 traits to ERCC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Little lower jaw	Always
Narrow opening between the eyelids	Always
Premature closure of fontanelles	Always
Prominent nasal bridge	Always
Short philtrum	Always
Abnormal facial shape	Very often (80–99%)
Abnormal of nasal shape	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Prominent metopic ridge	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Big lower jaw	Often (30–79%)
Long face	Often (30–79%)
Short neck	Often (30–79%)
Decreased width of baby teeth	Sometimes (5–29%)
Delayed eruption of baby teeth	Sometimes (5–29%)
Failure of development of all teeth	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)
Short chin	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Wide gaps between baby teeth	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Brisk reflexes	Always
EEG abnormality	Always
Global developmental delay	Always
Increased reflexes	Always
More grooves in brain	Always
Simplified gyral pattern	Always
Small cerebellum	Always
Absent/small cerebellum	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Neurodevelopmental delay	Very often (80–99%)
Patchy demyelination of subcortical white matter	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Abnormal gait	Often (30–79%)
Ataxia	Often (30–79%)
Balance impairment	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Epilepsy	Often (30–79%)
Peripheral neuropathy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Kyphoscoliosis	Always
Slender long bone	Always
Spasticity and rigidity of muscles	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Subcortical white matter calcifications	Very often (80–99%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Scarring	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dislocated radial head	Always
Elbow flexion contracture	Always
Flared wide portion of long bone	Always
Hip dislocation	Always
Inability to straighten knee	Always
Inward turned thumb	Always
Permanent flexion of the finger	Always
Rocker bottom foot	Always
Steep acetabular roof	Always
Wrist flexion contracture	Always
Increased muscle tone of arm or leg	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Flexion contracture of toe	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball on both sides	Always
Deeply set eye	Always
Involuntary, rapid, rhythmic eye movements	Always
Abnormally small eyeball	Very often (80–99%)
Clouding of the lens of the eye	Very often (80–99%)
Visual impairment	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Absence of eyeballs	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Uveitis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Always
Prenatal growth deficiency	Always
Short stature	Very often (80–99%)
Decreased body weight	Not recorded

Abnormality of the integument

Trait	How often it is seen
Photosensitive skin	Often (30–79%)
Premature aged appearance	Often (30–79%)
Hyperpigmented skin patches	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Very often (80–99%)
Enlarged liver	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Often (30–79%)
Decreased function of male gonad	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	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 ERCC1 and how often each is seen. Find out more at hpo.jax.org.

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