Traits

Traits linked to ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

The Human Phenotype Ontology links 201 traits to ERCC2, 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
Flattened and twisted hair	Always
Photosensitive skin	Always
Sparse hair	Always
Trichorrhexis nodosa	Always
Trichoschisis	Always
Dry skin	Very often (80–99%)
Freckling	Very often (80–99%)
Numerous pigmented freckles	Very often (80–99%)
Poikiloderma	Very often (80–99%)
Prematurely aged appearance	Very often (80–99%)
Skin degeneration	Very often (80–99%)
Thickened skin	Very often (80–99%)
Thin skin	Very often (80–99%)
Basal cell carcinoma	Often (30–79%)
Flat, discolored area of skin	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Hyperpigmented skin patches	Often (30–79%)
Papilloma	Often (30–79%)
Patchy loss of skin color	Often (30–79%)
Squamous cell carcinoma of the skin	Often (30–79%)
Absent/small nails	Sometimes (5–29%)
Beauty mark	Sometimes (5–29%)
Brittle hair	Sometimes (5–29%)
Brittle nails	Sometimes (5–29%)
Grooved nails	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)
Longitudinal splitting of nail	Sometimes (5–29%)
Poor fingernail formation	Sometimes (5–29%)
Pterygium	Sometimes (5–29%)
Spoon-shaped nails	Sometimes (5–29%)
Squamous cell carcinoma	Sometimes (5–29%)
Tiger tail banding	Sometimes (5–29%)
Congenital nonbullous ichthyosiform erythroderma	Not recorded
Fine hair	Not recorded
Poor nail formation	Not recorded
Small nail	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Absent/small cerebellum	Very often (80–99%)
Ataxia	Very often (80–99%)
Cognitive impairment	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Loss of developmental milestones	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Confusion	Often (30–79%)
Demyelinating peripheral neuropathy	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Epilepsy	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)
Cerebral dysmyelination	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Diffuse cerebellar atrophy	Sometimes (5–29%)
Generalized hyperreflexia	Sometimes (5–29%)
Generalized-onset seizure	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Intention tremor	Sometimes (5–29%)
Paraplegia/paraparesis	Sometimes (5–29%)
Partial agenesis of the corpus callosum	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Choreoathetosis	Not recorded
Delayed speech and language development	Not recorded
Mental deterioration	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Beaked nose	Always
Little lower jaw	Always
Prominent nose	Always
Receding chin	Always
Abnormal dentition	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%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Short neck	Often (30–79%)
Absence of scalp hair	Sometimes (5–29%)
Adhesion of eyelids	Sometimes (5–29%)
Bird-like facial appearance	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Dry eye syndrome	Sometimes (5–29%)
Enlargement of craniofacial bones	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Eyelid folded in	Sometimes (5–29%)
Flat nasal alae	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Hypoplasia of mandible relative to maxilla	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Short nose	Not recorded
Triangular mouth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Clouding of the lens of the eye	Always
Clouding of the lens of the eye at birth	Always
Deeply set eye	Always
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Noninflammatory retina disease	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Corneal inflammation	Often (30–79%)
Cross-eyed	Often (30–79%)
Double vision	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Abnormally close eyes	Sometimes (5–29%)
Abnormally small eyeball on both sides	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)
Eye tumor	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Macular degeneration	Sometimes (5–29%)
New blood vessel formation in cornea	Sometimes (5–29%)
Opacification of the corneal stroma	Sometimes (5–29%)
Retina degeneration	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Kyphoscoliosis	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Arthrogryposis multiplex congenita	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	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%)
Absent fat below the skin	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Increased bone mineral density	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Multiple joint contractures	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Thoracic kyphosis	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Skin rash	Very often (80–99%)
Abnormality of immune system physiology	Often (30–79%)
Congenital exfoliative erythroderma	Sometimes (5–29%)
Eczema	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Recurrent infections in bronchi and lungs	Sometimes (5–29%)
Asthma	Not recorded
Red scaly skin caused by inflammatory skin disease	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hardened artery wall	Very often (80–99%)
Hives	Very often (80–99%)
Spider veins	Very often (80–99%)
Telangiectasia of the skin	Very often (80–99%)
Redness of skin or mucous membrane	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Prenatal growth deficiency	Always
Small for gestational age	Always
Faltering weight	Very often (80–99%)
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Very often (80–99%)
Umbilical hernia	Sometimes (5–29%)
Chronic diarrhea	Not recorded
Intestinal obstruction	Not recorded
Malabsorption	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Sensorineural hearing impairment	Often (30–79%)
Bilateral sensorineural hearing impairment	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)
Large ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Always
Smaller than typical growth of scrotum	Always
Undescended testes	Often (30–79%)
Decreased testicular size	Sometimes (5–29%)
Gonadal dysgenesis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Permanent flexion of the finger	Always
Rocker bottom foot	Always
Clubbing of fingers and toes	Sometimes (5–29%)
Talipes	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Defective DNA repair after ultraviolet radiation damage	Sometimes (5–29%)
Panhypogammaglobulinemia	Sometimes (5–29%)
Decreased circulating IgG concentration	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased mean corpuscular hemoglobin concentration	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormality of amino acid metabolism	Very often (80–99%)
Fever	Very often (80–99%)
Abnormal urinary amino-acid findings	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Often (30–79%)
Abnormal tissue mass	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Joint pain	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Abnormality of prenatal development or birth	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Low-set nipples	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Very often (80–99%)

Abnormality of the respiratory system

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

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Sometimes (5–29%)

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 ERCC2 and how often each is seen. Find out more at hpo.jax.org.

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