Traits

Traits linked to PTRHD1

peptidyl-tRNA hydrolase domain containing 1

The Human Phenotype Ontology links 30 traits to PTRHD1, 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	Always
Balance impairment	Always
Difficulty articulating speech	Always
Freezing of gait	Always
Froment sign	Always
Global developmental delay	Always
Intellectual disability	Always
Parkinsonism	Always
Restlessness	Always
Sensory axonal neuropathy	Always
Short attention span	Always
Shuffled walk	Always
Slow movements	Always
Increased reflexes	Very often (80–99%)
Resting tremor	Very often (80–99%)
Amplification of sexual behavior	Often (30–79%)
Anxiety	Often (30–79%)
Babinski sign	Often (30–79%)
Excessive daytime sleepiness	Often (30–79%)
Postural tremor	Often (30–79%)
Depression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Teeth grinding	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cogwheel rigidity	Always
Distal lower limb amyotrophy	Always
Involuntary muscle stiffness, contraction, or spasm	Always

Abnormality of head or neck

Trait	How often it is seen
Expressionless face	Always

Abnormality of limbs

Trait	How often it is seen
Foot drop	Always

Abnormality of the digestive system

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

Abnormality of the eye

Trait	How often it is seen
Slow eye movements	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 PTRHD1 and how often each is seen. Find out more at hpo.jax.org.

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