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Traits
Traits linked to AFF4
ALF transcription elongation factor 4
The Human Phenotype Ontology links 89 traits to AFF4, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | Hoe vaak het voorkomt |
|---|---|
| Coarse facial features | Altijd |
| Monobrow | Altijd |
| Thick eyebrow | Altijd |
| Highly arched eyebrow | Heel vaak (80–99%) |
| Long eyelashes | Heel vaak (80–99%) |
| Nasal tip, upturned | Heel vaak (80–99%) |
| Abnormally small head | Vaak (30–79%) |
| Downturned corners of mouth | Vaak (30–79%) |
| High, narrow palate | Vaak (30–79%) |
| Long philtrum | Vaak (30–79%) |
| Round face | Vaak (30–79%) |
| Short nose | Vaak (30–79%) |
| Abnormally large tongue | Soms (5–29%) |
| Asymmetry of the posterior head | Soms (5–29%) |
| Downward slanting of the opening between the eyelids | Soms (5–29%) |
| Extra bones within cranial sutures | Soms (5–29%) |
| Full cheeks | Soms (5–29%) |
| High palate | Soms (5–29%) |
| Little lower jaw | Soms (5–29%) |
| Narrow forehead | Soms (5–29%) |
| Retraction of the tongue | Soms (5–29%) |
| Thin red part of the upper lip | Soms (5–29%) |
| Vertical forehead creases | Soms (5–29%) |
Abnormality of the cardiovascular system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Patent ductus arteriosus | Altijd |
| Abnormality of the heart | Vaak (30–79%) |
| Anomalous pulmonary venous return | Vaak (30–79%) |
| Hole in heart wall separating two lower heart chambers | Vaak (30–79%) |
| Increased spleen size | Vaak (30–79%) |
| Patent foramen ovale | Vaak (30–79%) |
| Bulge in wall of root of large artery that carries blood away from heart | Soms (5–29%) |
| Cardiac failure | Soms (5–29%) |
| Increased blood pressure in blood vessels of lungs | Soms (5–29%) |
Abnormality of the eye
| Trait | Hoe vaak het voorkomt |
|---|---|
| Bulging eye | Vaak (30–79%) |
| Clouding of the lens of the eye | Vaak (30–79%) |
| Optic atrophy | Vaak (30–79%) |
| Wide-set eyes | Vaak (30–79%) |
| Close sighted | Soms (5–29%) |
| Cross-eyed | Soms (5–29%) |
| Drooping upper eyelid | Soms (5–29%) |
| Exophoria | Soms (5–29%) |
| Lazy eye | Soms (5–29%) |
Abnormality of the ear
| Trait | Hoe vaak het voorkomt |
|---|---|
| Hearing impairment | Vaak (30–79%) |
| Thickened helices | Vaak (30–79%) |
| Conductive deafness | Soms (5–29%) |
| Cupped ear | Soms (5–29%) |
| Ears rotated toward back of head | Soms (5–29%) |
| Mixed hearing impairment | Soms (5–29%) |
| Sensorineural hearing impairment | Soms (5–29%) |
| Thickened ears | Soms (5–29%) |
Abnormality of the integument
| Trait | Hoe vaak het voorkomt |
|---|---|
| Coarse hair | Vaak (30–79%) |
| Curly hair | Vaak (30–79%) |
| Thick hair | Vaak (30–79%) |
| Abnormal fingernails | Soms (5–29%) |
| Abnormality of the toenail | Soms (5–29%) |
| Darkened and thickened skin | Soms (5–29%) |
| Excessive face hair | Soms (5–29%) |
| Underdeveloped toenails | Soms (5–29%) |
Abnormality of limbs
| Trait | Hoe vaak het voorkomt |
|---|---|
| Short fingers or toes | Altijd |
| Hypoplasia of proximal radius | Soms (5–29%) |
| Partial hip dislocation | Soms (5–29%) |
| Short calf bone | Soms (5–29%) |
| Small hand | Soms (5–29%) |
Abnormality of the respiratory system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the respiratory system | Heel vaak (80–99%) |
| Chronic lung disease | Vaak (30–79%) |
| Floppy windpipe | Vaak (30–79%) |
| Softening of voice box tissue | Vaak (30–79%) |
| Subglottic stenosis | Soms (5–29%) |
Abnormality of the digestive system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Acid reflux | Vaak (30–79%) |
| Constipation | Vaak (30–79%) |
| Delayed gastric emptying | Vaak (30–79%) |
| Gastrostomy tube feeding in infancy | Vaak (30–79%) |
Abnormality of the genitourinary system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Undescended testes | Altijd |
| Horseshoe kidney | Vaak (30–79%) |
| Vesicoureteral reflux | Vaak (30–79%) |
| Hypospadias | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormally shaped skeletal | Heel vaak (80–99%) |
| Abnormal vertebral morphology | Vaak (30–79%) |
| Cervical C2/C3 vertebral fusion | Vaak (30–79%) |
Abnormality of the nervous system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Global developmental delay | Altijd |
| Intellectual disability | Heel vaak (80–99%) |
| Pauses in breathing while sleeping | Vaak (30–79%) |
Abnormality of the endocrine system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Decreased response to growth hormone stimulation test | Soms (5–29%) |
| Underactive thyroid | Soms (5–29%) |
Abnormality of the immune system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Aspiration pneumonia | Vaak (30–79%) |
| Asthma | Soms (5–29%) |
Growth abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| Obesity | Altijd |
| Short stature | Altijd |
Abnormality of the breast
| Trait | Hoe vaak het voorkomt |
|---|---|
| Enlarged male breast | Soms (5–29%) |
Laboratory abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| High blood sugar | Soms (5–29%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to AFF4 and how often each is seen. Find out more at hpo.jax.org.
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