Traits

Traits linked to P4HTM

prolyl 4-hydroxylase, transmembrane

The Human Phenotype Ontology links 11 traits to P4HTM, 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
Intellectual disability, severe	Always
Abnormal gait	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the ankle	Always
Increased mobility in finger joint	Always
Knock knees	Always

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Obesity	Very often (80–99%)

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 P4HTM and how often each is seen. Find out more at hpo.jax.org.

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