Traits

Traits linked to INF2

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The Human Phenotype Ontology links 35 traits to INF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Always
Axonal loss	Always
Onion bulb formation	Always
Peripheral neuropathy	Always
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Abnormality of the nervous system	Rarely (1–4%)
Decreased reflex response	Not recorded
Decreased sensation in extremities	Not recorded
High stepping	Not recorded

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Always
Fluid retention	Very often (80–99%)
Elevated blood creatine phosphokinase	Often (30–79%)
Fever	Sometimes (5–29%)
Foamy urine	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)
Small amount of blood in urine	Not recorded

Abnormality of limbs

Trait	How often it is seen
Distal upper limb amyotrophy	Always
Claw hand deformity	Not recorded
Foot drop	Not recorded
Hammertoe	Not recorded
High-arched foot	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Stage 5 chronic kidney disease	Very often (80–99%)
Chronic kidney disease	Often (30–79%)
Focal segmental glomerulosclerosis	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Minimal change glomerulonephritis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Peritonitis	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal lower limb amyotrophy	Always
Weakness of outermost muscles	Always

Abnormality of head or neck

Trait	How often it is seen
Periorbital edema	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory tract infection	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 INF2 and how often each is seen. Find out more at hpo.jax.org.

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