Traits

Traits linked to PDSS1

decaprenyl diphosphate synthase subunit 1

The Human Phenotype Ontology links 15 traits to PDSS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Always
Livedo reticularis	Always
Mitral regurgitation	Always
Increased blood pressure in blood vessels of lungs	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Always
Peripheral neuropathy	Always
Absent reflexes	Often (30–79%)
Binge and purge	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	Always
Overweight	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated lactate:pyruvate ratio	Always
Higher than normal levels of lactate in blood	Always

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always

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 PDSS1 and how often each is seen. Find out more at hpo.jax.org.

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