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Traits
Traits linked to TRRAP
transformation/transcription domain associated protein
The Human Phenotype Ontology links 78 traits to TRRAP, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed fine motor development | Always |
| Delayed motor skills | Always |
| Global developmental delay | Always |
| Hallucinations | Always |
| Obsessive compulsive behavior | Always |
| Psychosis | Always |
| Intellectual disability | Very often (80–99%) |
| Autism spectrum disorder | Sometimes (5–29%) |
| Cerebellar vermis hypoplasia | Sometimes (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Overactive lower leg reflex | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
| Delayed CNS myelination | Rarely (1–4%) |
| Underdevelopment of part of brain called corpus callosum | Rarely (1–4%) |
| Absent speech development | Not recorded |
| Atrophy/Degeneration affecting the brainstem | Not recorded |
| Delayed ability to walk | Not recorded |
| Delayed speech and language development | Not recorded |
| More grooves in brain | Not recorded |
| Poor speech | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Sometimes (5–29%) |
| Absent tear duct | Sometimes (5–29%) |
| Cleft lip | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Bulbous nose | Not recorded |
| Depressed nasal bridge | Not recorded |
| Eye folds | Not recorded |
| Highly arched eyebrow | Not recorded |
| Little lower jaw | Not recorded |
| Narrow nose | Not recorded |
| Nasal tip, upturned | Not recorded |
| Prominent forehead | Not recorded |
| Prominent nasal bridge | Not recorded |
| Short nose | Not recorded |
| Short philtrum | Not recorded |
| Smooth philtrum | Not recorded |
| Thin red part of the upper lip | Not recorded |
| Upward slanting of the opening between the eyelids | Not recorded |
| Wide mouth | Not recorded |
| Wide nasal bridge | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Smaller than typical growth of scrotum | Often (30–79%) |
| Cystic kidney disease | Sometimes (5–29%) |
| Hydronephrosis | Sometimes (5–29%) |
| Microphallus | Sometimes (5–29%) |
| Small kidneys | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Vesicoureteral reflux | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Increased blood pressure in blood vessels of lungs | Sometimes (5–29%) |
| Narrowing of aorta | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| Patent foramen ovale | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Visual impairment | Sometimes (5–29%) |
| Optic disc coloboma | Rarely (1–4%) |
| Abnormally close eyes | Not recorded |
| Deeply set eye | Not recorded |
| Wide-set eyes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Often (30–79%) |
| Inguinal hernia | Rarely (1–4%) |
| Omphalocele | Rarely (1–4%) |
| Umbilical hernia | Rarely (1–4%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Always |
| Hearing impairment | Sometimes (5–29%) |
| Ears rotated toward back of head | Not recorded |
| Low-set ears | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Curvature of little finger | Sometimes (5–29%) |
| Webbed skin of 2nd-3rd toes | Sometimes (5–29%) |
| Short foot | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Often (30–79%) |
| Scoliosis | Sometimes (5–29%) |
| Congenital diaphragmatic hernia | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Atypical nail growth | Often (30–79%) |
| Small nail | Not recorded |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Accessory nipple | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent infections | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Laryngotracheomalacia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Often (30–79%) |
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 TRRAP and how often each is seen. Find out more at hpo.jax.org.
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