Traits

Traits linked to ITM2B

integral membrane protein 2B

The Human Phenotype Ontology links 19 traits to ITM2B, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Extreme sensitivity of the eyes to light	Always
Optic disc pallor	Always
Blind spot located at fixation point	Very often (80–99%)
Difficulties with night vision	Sometimes (5–29%)
Breakdown of light-sensitive cells in back of eye	Not recorded
Posterior polar cataract	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Not recorded
Dementia	Not recorded
Intention tremor	Not recorded
Neurofibrillary tangles	Not recorded
Psychosis	Not recorded
Tremor	Not recorded
Worsening neurological symptoms	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Rigidity	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded

Laboratory abnormality

Trait	How often it is seen
Cerebral amyloid angiopathy	Not recorded

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 ITM2B and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test