Traits

Traits linked to TRIP13

thyroid hormone receptor interactor 13

The Human Phenotype Ontology links 100 traits to TRIP13, 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
Dandy-Walker malformation	Very often (80–99%)
Eye folds	Very often (80–99%)
Increased nuchal translucency	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Abnormally small head	Often (30–79%)
Triangular face	Often (30–79%)
Abnormality of the skull	Sometimes (5–29%)
Beaked nose	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Flat nose	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Female infertility	Always
Nephroblastoma	Always
Metaphase I oocyte maturation arrest	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Abnormal uterus morphology	Sometimes (5–29%)
Ambiguous external genitalia	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vaginal tumor	Sometimes (5–29%)
Varicocele	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Very often (80–99%)
Clouding of the lens of the eye	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Glaucoma	Very often (80–99%)
Abnormality of the eye	Often (30–79%)
Abnormality of vision	Often (30–79%)
Absent iris	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Rod-cone dystrophy	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal mass	Very often (80–99%)
Accumulation of fluid in the abdomen	Very often (80–99%)
Abdominal pain	Often (30–79%)
Duplication of renal pelvis	Often (30–79%)
Absence or narrowing of first part of small bowel	Sometimes (5–29%)
Colon cancer	Sometimes (5–29%)
Growths in inner lining of intestine	Sometimes (5–29%)
Liver cancer	Sometimes (5–29%)
Stomach cancer	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal aortic morphology	Sometimes (5–29%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic regurgitation	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Narrowing of blood vessel below aortic heart valve	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Ventriculomegaly	Very often (80–99%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Absent/small cerebellum	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Holoprosencephaly	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscular dystrophy	Very often (80–99%)
Abnormality of the skeletal system	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute lymphoblastic leukemia	Sometimes (5–29%)
Increased red blood cells	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Reduced von Willebrand factor activity	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal lung lobation	Sometimes (5–29%)
Apnea	Sometimes (5–29%)
Lung cancer	Sometimes (5–29%)
Breathing difficulty	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Growth delay	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)
Weight loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Bloody urine	Often (30–79%)
Fever	Sometimes (5–29%)
High blood calcium levels	Sometimes (5–29%)
Small amount of blood in urine	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the upper limb	Sometimes (5–29%)
Asymmetric overgrowth	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin pigmentation	Sometimes (5–29%)
Few cafe-au-lait spots	Sometimes (5–29%)
Multiple birthmarks	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)
Zygotic cleavage failure	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Premature chromatid separation	Always

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)

Abnormality of the endocrine system

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

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Malaise	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 TRIP13 and how often each is seen. Find out more at hpo.jax.org.

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