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 det ses
Coarse facial features	Altid
Monobrow	Altid
Thick eyebrow	Altid
Highly arched eyebrow	Meget ofte (80–99 %)
Long eyelashes	Meget ofte (80–99 %)
Nasal tip, upturned	Meget 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	Nogle gange (5–29 %)
Asymmetry of the posterior head	Nogle gange (5–29 %)
Downward slanting of the opening between the eyelids	Nogle gange (5–29 %)
Extra bones within cranial sutures	Nogle gange (5–29 %)
Full cheeks	Nogle gange (5–29 %)
High palate	Nogle gange (5–29 %)
Little lower jaw	Nogle gange (5–29 %)
Narrow forehead	Nogle gange (5–29 %)
Retraction of the tongue	Nogle gange (5–29 %)
Thin red part of the upper lip	Nogle gange (5–29 %)
Vertical forehead creases	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Patent ductus arteriosus	Altid
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	Nogle gange (5–29 %)
Cardiac failure	Nogle gange (5–29 %)
Increased blood pressure in blood vessels of lungs	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
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	Nogle gange (5–29 %)
Cross-eyed	Nogle gange (5–29 %)
Drooping upper eyelid	Nogle gange (5–29 %)
Exophoria	Nogle gange (5–29 %)
Lazy eye	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Hearing impairment	Ofte (30–79 %)
Thickened helices	Ofte (30–79 %)
Conductive deafness	Nogle gange (5–29 %)
Cupped ear	Nogle gange (5–29 %)
Ears rotated toward back of head	Nogle gange (5–29 %)
Mixed hearing impairment	Nogle gange (5–29 %)
Sensorineural hearing impairment	Nogle gange (5–29 %)
Thickened ears	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Coarse hair	Ofte (30–79 %)
Curly hair	Ofte (30–79 %)
Thick hair	Ofte (30–79 %)
Abnormal fingernails	Nogle gange (5–29 %)
Abnormality of the toenail	Nogle gange (5–29 %)
Darkened and thickened skin	Nogle gange (5–29 %)
Excessive face hair	Nogle gange (5–29 %)
Underdeveloped toenails	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Short fingers or toes	Altid
Hypoplasia of proximal radius	Nogle gange (5–29 %)
Partial hip dislocation	Nogle gange (5–29 %)
Short calf bone	Nogle gange (5–29 %)
Small hand	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormality of the respiratory system	Meget ofte (80–99 %)
Chronic lung disease	Ofte (30–79 %)
Floppy windpipe	Ofte (30–79 %)
Softening of voice box tissue	Ofte (30–79 %)
Subglottic stenosis	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
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 det ses
Undescended testes	Altid
Horseshoe kidney	Ofte (30–79 %)
Vesicoureteral reflux	Ofte (30–79 %)
Hypospadias	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Abnormally shaped skeletal	Meget 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 det ses
Global developmental delay	Altid
Intellectual disability	Meget ofte (80–99 %)
Pauses in breathing while sleeping	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Decreased response to growth hormone stimulation test	Nogle gange (5–29 %)
Underactive thyroid	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Aspiration pneumonia	Ofte (30–79 %)
Asthma	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Obesity	Altid
Short stature	Altid

Abnormality of the breast

Trait	Hvor ofte det ses
Enlarged male breast	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
High blood sugar	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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