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	Hvor ofte den forekommer
Coarse facial features	Alltid
Monobrow	Alltid
Thick eyebrow	Alltid
Highly arched eyebrow	Svært ofte (80–99 %)
Long eyelashes	Svært ofte (80–99 %)
Nasal tip, upturned	Svært ofte (80–99 %)
Abnormally small head	Ofte (30–79 %)
Downturned corners of mouth	Ofte (30–79 %)
High, narrow palate	Ofte (30–79 %)
Long philtrum	Ofte (30–79 %)
Round face	Ofte (30–79 %)
Short nose	Ofte (30–79 %)
Abnormally large tongue	Noen ganger (5–29 %)
Asymmetry of the posterior head	Noen ganger (5–29 %)
Downward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Extra bones within cranial sutures	Noen ganger (5–29 %)
Full cheeks	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Narrow forehead	Noen ganger (5–29 %)
Retraction of the tongue	Noen ganger (5–29 %)
Thin red part of the upper lip	Noen ganger (5–29 %)
Vertical forehead creases	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Patent ductus arteriosus	Alltid
Abnormality of the heart	Ofte (30–79 %)
Anomalous pulmonary venous return	Ofte (30–79 %)
Hole in heart wall separating two lower heart chambers	Ofte (30–79 %)
Increased spleen size	Ofte (30–79 %)
Patent foramen ovale	Ofte (30–79 %)
Bulge in wall of root of large artery that carries blood away from heart	Noen ganger (5–29 %)
Cardiac failure	Noen ganger (5–29 %)
Increased blood pressure in blood vessels of lungs	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Bulging eye	Ofte (30–79 %)
Clouding of the lens of the eye	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Close sighted	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Exophoria	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Hearing impairment	Ofte (30–79 %)
Thickened helices	Ofte (30–79 %)
Conductive deafness	Noen ganger (5–29 %)
Cupped ear	Noen ganger (5–29 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Mixed hearing impairment	Noen ganger (5–29 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)
Thickened ears	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Coarse hair	Ofte (30–79 %)
Curly hair	Ofte (30–79 %)
Thick hair	Ofte (30–79 %)
Abnormal fingernails	Noen ganger (5–29 %)
Abnormality of the toenail	Noen ganger (5–29 %)
Darkened and thickened skin	Noen ganger (5–29 %)
Excessive face hair	Noen ganger (5–29 %)
Underdeveloped toenails	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Short fingers or toes	Alltid
Hypoplasia of proximal radius	Noen ganger (5–29 %)
Partial hip dislocation	Noen ganger (5–29 %)
Short calf bone	Noen ganger (5–29 %)
Small hand	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormality of the respiratory system	Svært ofte (80–99 %)
Chronic lung disease	Ofte (30–79 %)
Floppy windpipe	Ofte (30–79 %)
Softening of voice box tissue	Ofte (30–79 %)
Subglottic stenosis	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Acid reflux	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Delayed gastric emptying	Ofte (30–79 %)
Gastrostomy tube feeding in infancy	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Undescended testes	Alltid
Horseshoe kidney	Ofte (30–79 %)
Vesicoureteral reflux	Ofte (30–79 %)
Hypospadias	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Abnormally shaped skeletal	Svært ofte (80–99 %)
Abnormal vertebral morphology	Ofte (30–79 %)
Cervical C2/C3 vertebral fusion	Ofte (30–79 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Global developmental delay	Alltid
Intellectual disability	Svært ofte (80–99 %)
Pauses in breathing while sleeping	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased response to growth hormone stimulation test	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Aspiration pneumonia	Ofte (30–79 %)
Asthma	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Obesity	Alltid
Short stature	Alltid

Abnormality of the breast

Trait	Hvor ofte den forekommer
Enlarged male breast	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
High blood sugar	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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