Traits

Traits linked to ERCC6

ERCC excision repair 6, chromatin remodeling factor

The Human Phenotype Ontology links 248 traits to ERCC6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Babinski sign	Always
Decreased reflex response	Always
Gliosis	Always
Global developmental delay	Always
Intellectual disability	Always
Leukodystrophy	Always
Mental deterioration	Always
Olivopontocerebellar atrophy	Always
Peripheral nerve disease	Always
Abnormal myelination	Very often (80–99%)
Absent brainstem auditory responses	Very often (80–99%)
Absent/small cerebellum	Very often (80–99%)
Astrocytosis	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	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%)
Abnormality of peripheral nerve conduction	Often (30–79%)
Absent reflexes	Often (30–79%)
Ataxia	Often (30–79%)
Axonal degeneration	Often (30–79%)
Balance impairment	Often (30–79%)
Brain degeneration	Often (30–79%)
Cerebral white matter atrophy	Often (30–79%)
CNS demyelination	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Demyelinating peripheral neuropathy	Often (30–79%)
Diffuse cerebral atrophy	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized brain degeneration	Often (30–79%)
Grand mal seizures	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Intention tremor	Often (30–79%)
Ongoing loss of nerve cells	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Tremor	Often (30–79%)
Unsteady walk	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Worsening neurological symptoms	Often (30–79%)
Cognitive impairment	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Abnormal auditory evoked potentials	Not recorded
Abnormal peripheral myelination	Not recorded
Agenesis of corpus callosum	Not recorded
Choreoathetosis	Not recorded
Decreased nerve conduction velocity	Not recorded
Delayed myelination	Not recorded
IQ less than 20	Not recorded
Normal pressure hydrocephalus	Not recorded
Peripheral dysmyelination	Not recorded
Small cerebellum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Prominent nasal bridge	Always
Triangular face	Always
Abnormal facial shape	Very often (80–99%)
Abnormal of nasal shape	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Prominent metopic ridge	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Big lower jaw	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Dental cavities	Often (30–79%)
Long face	Often (30–79%)
Prominent nose	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%)
Narrow nose	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)
Progressively abnormally small cranium	Sometimes (5–29%)
Short chin	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Wide gaps between baby teeth	Sometimes (5–29%)
Dry eye syndrome	Rarely (1–4%)
Bad bite	Not recorded
Decreased amount of facial fat	Not recorded
Decreased size of teeth	Not recorded
Decreased volume of lip	Not recorded
Everted eyelid	Not recorded
Eyelid folded in	Not recorded
Increased thickness of skull cap	Not recorded
Long philtrum	Not recorded
Narrow opening between the eyelids	Not recorded
Slender nose	Not recorded
Sloping forehead	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Deeply set eye	Always
Clouding of the lens of the eye	Very often (80–99%)
Pigmentary retinopathy	Very often (80–99%)
Clouding of the lens of the eye at birth	Often (30–79%)
Constricted pupils	Often (30–79%)
Cross-eyed	Often (30–79%)
Decreased tear secretion	Often (30–79%)
Optic atrophy	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Absence of eyeballs	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Uveitis	Sometimes (5–29%)
Breakdown of light-sensitive cells in back of eye	Rarely (1–4%)
Bulging of eye lens	Rarely (1–4%)
Cornea of eye less than 10mm in diameter	Rarely (1–4%)
Corneal ulceration	Rarely (1–4%)
Optic disc pallor	Rarely (1–4%)
Retina degeneration	Rarely (1–4%)
Retinal atrophy	Rarely (1–4%)
Abnormality of visual evoked potentials	Not recorded
Corneal inflammation	Not recorded
Opacification of the corneal stroma	Not recorded
Underdeveloped iris	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Arthrogryposis multiplex congenita	Very often (80–99%)
Basal ganglia calcification	Very often (80–99%)
Cerebellar dentate nucleus calcification	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Subcortical white matter calcifications	Very often (80–99%)
Flexed joint that cannot be straightened	Often (30–79%)
Functional motor deficit	Often (30–79%)
Hunched back	Often (30–79%)
Muscle degeneration	Often (30–79%)
Scissor gait	Often (30–79%)
Scoliosis	Often (30–79%)
Lower limb spasticity	Sometimes (5–29%)
Scarring	Sometimes (5–29%)
Cerebellar calcifications	Not recorded
Hypoplastic iliac wing	Not recorded
Hypoplastic pelvis	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Kyphoscoliosis	Not recorded
Limitation of joint mobility	Not recorded
Muscle weakness	Not recorded
Osteoporosis	Not recorded
Permanent flexion of the finger or toe	Not recorded
Square pelvis bone	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal pigmentation in sun-exposed skin	Always
Dry skin	Always
Freckling	Always
Hyperpigmented skin patches	Always
Photosensitive skin	Always
Reduced fat tissue below the skin	Always
Decreased ability to sweat	Often (30–79%)
Parakeratosis	Often (30–79%)
Premature aged appearance	Often (30–79%)
Dry hair	Sometimes (5–29%)
Premature graying of hair	Sometimes (5–29%)
Abnormal skin pigmentation	Not recorded
Abnormality of the hair	Not recorded
Atypical scarring of skin	Not recorded
Excessive hairiness	Not recorded
Lack of sweating	Not recorded
Poikiloderma	Not recorded
Prematurely aged appearance	Not recorded
Skin degeneration	Not recorded
Sparse hair	Not recorded

Abnormality of limbs

Trait	How often it is seen
Equinovarus deformity	Always
Contractures of the foot joints	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Bilateral coxa valga	Often (30–79%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Coxa valga	Not recorded
Elbow flexion contracture	Not recorded
Foot crease	Not recorded
Inability to straighten knee	Not recorded
Increased bone density of end part of the hand bones	Not recorded
Joint contracture of the hand	Not recorded
Rocker bottom foot	Not recorded
Second metatarsal posteriorly placed	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Always
Previous menstrual periods stop	Always
Short penis	Always
Undescended testes	Always
Lack of bladder control due to nervous system injury	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Urinary retention	Sometimes (5–29%)
Absent kidney on one side	Rarely (1–4%)
Small kidneys	Rarely (1–4%)
Light or infrequent menstrual periods	Not recorded
Underdeveloped gonad	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Spider veins	Always
High blood pressure	Often (30–79%)
Premature coronary artery disease	Often (30–79%)
Vascular calcification	Often (30–79%)
Increased blood pressure	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Rarely (1–4%)
Disease of the heart muscle	Rarely (1–4%)
Increased spleen size	Rarely (1–4%)
Stroke	Rarely (1–4%)
Abnormal heart rate	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Always
Small for gestational age	Always
Growth delay as children	Very often (80–99%)
Short stature	Very often (80–99%)
Severe short stature	Often (30–79%)
Mild growth deficiency	Sometimes (5–29%)
Severe faltering weight	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased CSF 5-hydroxyindolacetic acid concentration	Always
High liver enzymes	Very often (80–99%)
Abnormality of temperature regulation	Often (30–79%)
Body fails to respond to insulin	Often (30–79%)
Dehydration	Often (30–79%)
High urine protein levels	Often (30–79%)
Increased blood urea nitrogen	Often (30–79%)
Metabolic acidosis	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Hearing impairment	Very often (80–99%)
Adult onset sensorineural hearing impairment	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Abnormality of the ear	Not recorded
Abnormally shaped ears	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Very often (80–99%)
Diarrhea	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Retinal bleeding	Rarely (1–4%)
Subdural hemorrhage	Rarely (1–4%)

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%)
Elevated circulating follicle stimulating hormone level	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Alveolar cell carcinoma	Not recorded
Lung adenocarcinoma	Not recorded
Non-small cell lung carcinoma	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Defective DNA repair after ultraviolet radiation damage	Not recorded
Increased cellular sensitivity to UV light	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded
Cancer of skin pigment cells	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Always
Abnormality of immune system physiology	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	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 ERCC6 and how often each is seen. Find out more at hpo.jax.org.

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