Traits

Traits linked to FBXO22

F-box protein 22

The Human Phenotype Ontology links 114 traits to FBXO22, by body system: features seen in people with one of the gene's rare conditions.

FBXO22

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Abnormally small head	Often (30–79%)
Decreased facial muscle tone	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High forehead	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow palate	Often (30–79%)
Short nose	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Small head present at birth	Often (30–79%)
Triangular face	Often (30–79%)
Bulbous nose	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Early eruption of teeth	Sometimes (5–29%)
Fragile teeth	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Grand mal seizures	Always
Neurodevelopmental delay	Very often (80–99%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Poor fine motor coordination	Often (30–79%)
Abnormal periventricular white matter morphology	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Periventricular cysts	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Often (30–79%)
Absent kidney	Often (30–79%)
Bilateral renal dysplasia	Often (30–79%)
Cystic kidney disease	Often (30–79%)
Hyperechogenic kidneys	Often (30–79%)
Short penis	Often (30–79%)
Small kidneys	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal external genitalia	Sometimes (5–29%)
Increased urine output	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Biventricular hypertrophy	Always
Narrowing of aorta	Always
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Hypoplastic tricuspid valve	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Strawberry mark	Sometimes (5–29%)
Underdeveloped right heart	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor suck	Very often (80–99%)
Absence or narrowing of first part of small bowel	Often (30–79%)
Acid reflux	Often (30–79%)
Annular pancreas	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Stomach hernia	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Retina issue	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Harder, denser, fracture-prone bones	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Food intolerance	Sometimes (5–29%)
High blood phosphate levels	Sometimes (5–29%)
Low blood calcium levels	Sometimes (5–29%)
Low blood phosphate level	Sometimes (5–29%)
Low blood sugar	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Coxa valga	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the nail	Sometimes (5–29%)
Blue discoloration of the skin	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)
Premature skin wrinkling	Sometimes (5–29%)
Thickened skin	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)
Fetal ascites	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)
Prenatal double bubble sign	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal insufficiency	Sometimes (5–29%)
Early onset of puberty	Sometimes (5–29%)
Overactive thyroid	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Small for gestational age	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Central hypoventilation	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)
Recurrent aspiration pneumonia	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	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 FBXO22 and how often each is seen. Find out more at hpo.jax.org.

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