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Traits
Traits linked to FRYL
FRY like transcription coactivator
The Human Phenotype Ontology links 70 traits to FRYL, 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 |
|---|---|
| Abnormal social development | Always |
| Anxiety | Always |
| Attention deficit | Always |
| Borderline personality disorder | Always |
| Delayed speech and language development | Always |
| Depression | Always |
| Difficulty sleeping | Always |
| Global developmental delay | Always |
| Intellectual disability | Always |
| Tic disorder | Always |
| Autism | Often (30–79%) |
| Generalized-onset seizure | Often (30–79%) |
| Seizure affecting one half of brain | Often (30–79%) |
| Cortical dysplasia | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Hippocampal malrotation | Sometimes (5–29%) |
| Thin corpus callosum | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Downward slanting of the opening between the eyelids | Always |
| Upward slanting of the opening between the eyelids | Always |
| Abnormally small head | Sometimes (5–29%) |
| Almond shaped eyes | Sometimes (5–29%) |
| Depressed nasal bridge | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| Long face | Sometimes (5–29%) |
| Long philtrum | Sometimes (5–29%) |
| Narrow forehead | Sometimes (5–29%) |
| Nasal tip, upturned | Sometimes (5–29%) |
| Pit in front of the ear | Sometimes (5–29%) |
| Receding chin | Sometimes (5–29%) |
| Short nose | Sometimes (5–29%) |
| Short philtrum | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Absent spleen | Always |
| Increased blood pressure in blood vessels of lungs | Always |
| Multiple small spleens | Always |
| Patent foramen ovale | Often (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Heart tip and four chambers point towards right side of body | Sometimes (5–29%) |
| Hole in center of heart | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Interrupted aortic arch | Sometimes (5–29%) |
| Narrowing of aortic valve | Sometimes (5–29%) |
| Narrowing of peripheral lung artery | Sometimes (5–29%) |
| Narrowing of pulmonic valve | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| Tetralogy of Fallot | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Chordee | Always |
| Horseshoe kidney | Always |
| Hydrocele testis | Always |
| Hypospadias | Always |
| Loss of bladder control | Always |
| Undescended testes | Always |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Cancer of lymphatic system | Always |
| Low platelet count | Always |
| Intraventricular hemorrhage | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Jejunal atresia | Sometimes (5–29%) |
| Microcolon | Sometimes (5–29%) |
| Midline liver | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Always |
| Ears rotated toward back of head | Sometimes (5–29%) |
| Low-set ears | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Decreased body weight | Often (30–79%) |
| Small for gestational age | Often (30–79%) |
| Short stature | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Deeply set eye | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Atypical nail growth | Sometimes (5–29%) |
| Spinal dimple | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Pigeon chest | Always |
| Low muscle tone | 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 FRYL and how often each is seen. Find out more at hpo.jax.org.
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