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.

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always
Monobrow	Always
Thick eyebrow	Always
Highly arched eyebrow	Very often (80–99%)
Long eyelashes	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Abnormally small head	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
High, narrow palate	Often (30–79%)
Long philtrum	Often (30–79%)
Round face	Often (30–79%)
Short nose	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Extra bones within cranial sutures	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Retraction of the tongue	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Vertical forehead creases	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Always
Abnormality of the heart	Often (30–79%)
Anomalous pulmonary venous return	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Increased spleen size	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Optic atrophy	Often (30–79%)
Wide-set eyes	Often (30–79%)
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Exophoria	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Thickened helices	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Thickened ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Coarse hair	Often (30–79%)
Curly hair	Often (30–79%)
Thick hair	Often (30–79%)
Abnormal fingernails	Sometimes (5–29%)
Abnormality of the toenail	Sometimes (5–29%)
Darkened and thickened skin	Sometimes (5–29%)
Excessive face hair	Sometimes (5–29%)
Underdeveloped toenails	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Always
Hypoplasia of proximal radius	Sometimes (5–29%)
Partial hip dislocation	Sometimes (5–29%)
Short calf bone	Sometimes (5–29%)
Small hand	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Very often (80–99%)
Chronic lung disease	Often (30–79%)
Floppy windpipe	Often (30–79%)
Softening of voice box tissue	Often (30–79%)
Subglottic stenosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Constipation	Often (30–79%)
Delayed gastric emptying	Often (30–79%)
Gastrostomy tube feeding in infancy	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Horseshoe kidney	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Hypospadias	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormally shaped skeletal	Very often (80–99%)
Abnormal vertebral morphology	Often (30–79%)
Cervical C2/C3 vertebral fusion	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Very often (80–99%)
Pauses in breathing while sleeping	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)
Asthma	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Always
Short stature	Always

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High blood sugar	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 AFF4 and how often each is seen. Find out more at hpo.jax.org.

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