Traits

Traits linked to TINF2

TERF1 interacting nuclear factor 2

The Human Phenotype Ontology links 128 traits to TINF2, by body system: features seen in people with one of the gene's rare conditions.

TINF2

Abnormality of the integument

Trait	How often it is seen
Fine, reticulate skin pigmentation	Always
Poor nail formation	Always
Abnormal blistering of the skin	Very often (80–99%)
Abnormal fingernails	Very often (80–99%)
Atypical nail growth	Very often (80–99%)
Flat, discolored area of skin	Very often (80–99%)
Hyperpigmented skin patches	Very often (80–99%)
Reticular hyperpigmentation	Very often (80–99%)
Skin degeneration	Very often (80–99%)
Absent/small skin	Often (30–79%)
Absent/small toenails	Often (30–79%)
Excessive sweating	Often (30–79%)
Excessive wrinkled skin	Often (30–79%)
Generalized hyperpigmentation	Often (30–79%)
Generalized hypopigmentation of hair	Often (30–79%)
Open skin sore	Often (30–79%)
Patchy loss of skin color	Often (30–79%)
Premature graying of hair	Often (30–79%)
Reticulated skin pigmentation	Often (30–79%)
Sparse hair	Often (30–79%)
Hair loss	Sometimes (5–29%)
Skin vesicle	Sometimes (5–29%)
White hair	Sometimes (5–29%)
Dry skin	Not recorded
Fine hair	Not recorded
Grooved nails	Not recorded
Nail pits	Not recorded
Ridged fingernail	Not recorded
Squamous cell carcinoma of the skin	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Aplastic anemia	Always
Bone marrow failure	Always
Decreased blood leukocyte number	Always
Low blood cell count	Always
Low blood neutrophil count	Always
Macrocytic anemia	Always
Abnormality of neutrophils	Very often (80–99%)
Increased mean corpuscular volume	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Low platelet count	Very often (80–99%)
Abnormality of coagulation	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Abnormal leukocyte morphology	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Decreased blood lymphocyte number	Not recorded
Myelodysplasia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Incoordination	Always
Small cerebellum	Always
Wide based walk	Always
Intellectual disability	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Ataxia	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Delayed speech and language development	Not recorded
Specific learning disability	Not recorded
Worsening neurological symptoms	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Oral white patch	Always
Abnormal dentition	Often (30–79%)
Dental cavities	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Gum disease	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Taurodontia	Often (30–79%)
Abnormal eyelashes	Sometimes (5–29%)
Abnormality of the eyebrow	Sometimes (5–29%)
Decreased size of maxilla	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Early tooth loss	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between trachea and esophagus	Often (30–79%)
Anorectal anomaly	Often (30–79%)
Malabsorption	Often (30–79%)
Narrowing of esophagus due to inflammation and scar tissue	Often (30–79%)
Narrowing of the esophagus	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Hepatic necrosis	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Serous retinal detachment	Always
Visual loss	Always
Increased tears	Often (30–79%)
Retinal detachment	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Enlarged cornea	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Leukocoria	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Intracranial calcification	Very often (80–99%)
Osteopenia	Often (30–79%)
Recurrent fractures	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Death of bone due to decreased blood supply	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal morphology of female internal genitalia	Often (30–79%)
Narrowing of the urethra	Often (30–79%)
Abnormality of the testis	Sometimes (5–29%)
Displacement of the urethral meatus	Sometimes (5–29%)
Urethral stricture	Sometimes (5–29%)
Undescended testes	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Often (30–79%)
Abnormality of the pharynx	Often (30–79%)
Decreased DLCO	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)
Interstitial pneumonitis	Sometimes (5–29%)
Pulmonary scarring	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)
Growth delay	Often (30–79%)
Faltering weight in infancy	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Coarse metaphyseal trabecularization	Often (30–79%)
Avascular necrosis of the capital femoral epiphysis	Sometimes (5–29%)
Thickening of palms and soles	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Telangiectasia of the skin	Often (30–79%)
Budd-Chiari syndrome	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Very often (80–99%)
Cellular immunodeficiency	Often (30–79%)
Recurrent respiratory infections	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Short telomere length	Always

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Often (30–79%)

Abnormality of the ear

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

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	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 TINF2 and how often each is seen. Find out more at hpo.jax.org.

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