Traits

Traits linked to TRAF7

TNF receptor associated factor 7

The Human Phenotype Ontology links 143 traits to TRAF7, 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
Global developmental delay	Always
Intracranial meningioma	Very often (80–99%)
Abnormal brain FDG positron emission tomography	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Focal T2 hypointense thalamic lesion	Often (30–79%)
Headache	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Tethered cord	Often (30–79%)
Abnormal central motor function	Sometimes (5–29%)
Abnormal central sensory function	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormality of the cerebellum	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Spinal meningioma	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Trigeminal neuralgia	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)
Abnormal speech pattern	Rarely (1–4%)
Brain stem compression	Rarely (1–4%)
Can't control feelings	Rarely (1–4%)
Excessive daytime sleepiness	Rarely (1–4%)
Spasms on one side of the face	Rarely (1–4%)
Transient global amnesia	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating ACTH concentration	Often (30–79%)
Decreased circulating follicle stimulating hormone concentration	Often (30–79%)
Decreased circulating luteinizing hormone level	Often (30–79%)
Decreased serum estradiol	Often (30–79%)
Decreased serum testosterone level	Often (30–79%)
Hypogonadotropic hypogonadism	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Low blood cortisol level	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Secondary growth hormone deficiency	Often (30–79%)
Abnormal hypothalamus physiology	Sometimes (5–29%)
Enlarged pituitary gland	Sometimes (5–29%)
Hypothalamic hypothyroidism	Sometimes (5–29%)
Neoplasm of the anterior pituitary	Sometimes (5–29%)
Reduced circulating prolactin concentration	Sometimes (5–29%)
Neoplasm of the posterior pituitary	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Eye folds	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Short neck	Often (30–79%)
Thickened skin folds of neck	Often (30–79%)
Abnormality of the sense of smell	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Cystic hygroma	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Redundant neck skin	Sometimes (5–29%)
Neoplasm of the tongue	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Bitemporal hemianopia	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormal kinetic perimetry test	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Papilledema	Sometimes (5–29%)
Slow decrease in sharpness of vision	Sometimes (5–29%)
Visual acuity test abnormality	Sometimes (5–29%)
Weak extraocular muscles	Sometimes (5–29%)
Blindness	Rarely (1–4%)
Bulging eye	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mitral atresia	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Narrowing of aortic valve	Sometimes (5–29%)
Pulmonary artery atresia	Sometimes (5–29%)
Supravalvar pulmonary stenosis	Sometimes (5–29%)
Underdeveloped left heart	Sometimes (5–29%)
Fainting spell	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Often (30–79%)
Decreased arm strength	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Finger bends toward pinky	Sometimes (5–29%)
Fluid accumulation in lower limbs	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Long big toe	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Radial deviation of finger	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Pigeon chest	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Functional motor deficit	Sometimes (5–29%)
Joint contracture	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Back pain	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Stomach hernia	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Low-set ears	Sometimes (5–29%)
Ear pain	Rarely (1–4%)
Ringing in ears	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Abnormal number of hair whorls	Often (30–79%)
Chicken skin	Sometimes (5–29%)
Neurofibroma	Sometimes (5–29%)
Skin cancer	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Sometimes (5–29%)
Obesity	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Often (30–79%)
Difficulty getting a full erection	Often (30–79%)
Loss of bladder control	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Often (30–79%)
Abnormality on pulmonary function testing	Rarely (1–4%)
Progressive pulmonary function impairment	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Chromosomal breakage induced by ionizing radiation	Very often (80–99%)
Increased sensitivity to ionizing radiation	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Sometimes (5–29%)
Premature birth	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)
Inverted nipples	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Rarely (1–4%)

Abnormality of the immune system

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

Abnormality of the thoracic cavity

Trait	How often it is seen
Abnormal mediastinum morphology	Rarely (1–4%)

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 TRAF7 and how often each is seen. Find out more at hpo.jax.org.

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