Traits

Traits linked to ARSI

arylsulfatase family member I

The Human Phenotype Ontology links 14 traits to ARSI, 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 gait	Often (30–79%)
Absent reflexes	Often (30–79%)
Chronic sensorineural polyneuropathy	Often (30–79%)
Colpocephaly	Often (30–79%)
Impaired vibration sensation in the lower limbs	Often (30–79%)
Intellectual disability	Often (30–79%)
Small cerebellum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb amyotrophy	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Progressive spastic paraplegia	Often (30–79%)
Spastic walk	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
Increased muscle tone of arm or leg	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 ARSI and how often each is seen. Find out more at hpo.jax.org.

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