Traits

Traits linked to IMPDH2

inosine monophosphate dehydrogenase 2

The Human Phenotype Ontology links 34 traits to IMPDH2, 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
Abnormal substantia nigra morphology	Often (30–79%)
Abnormality of extrapyramidal motor function	Often (30–79%)
Anxiety	Often (30–79%)
Ataxia	Often (30–79%)
Babinski sign	Often (30–79%)
Brisk reflexes	Often (30–79%)
Depression	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Focal dystonia	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Limb dystonia	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Parkinsonism	Often (30–79%)
Postural tremor	Often (30–79%)
Generalized dystonia	Sometimes (5–29%)
Impaired vibration sensation in the lower limbs	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Slow movements	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rigidity	Often (30–79%)
Progressive flexion contractures	Sometimes (5–29%)
Rheumatoid arthritis	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
High-arched foot	Often (30–79%)
Paresis of extensor muscles of the big toe	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased CSF homovanillic acid concentration	Often (30–79%)
Transient hyperphenylalaninemia	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Wry neck	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Horizontal nystagmus	Sometimes (5–29%)

Constitutional symptom

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

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 IMPDH2 and how often each is seen. Find out more at hpo.jax.org.

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