Traits

Traits linked to PNKD

PNKD metallo-beta-lactamase domain containing

The Human Phenotype Ontology links 21 traits to PNKD, 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
Paroxysmal choreoathetosis	Always
Dystonia	Very often (80–99%)
Paroxysmal dyskinesia	Very often (80–99%)
Chorea	Often (30–79%)
Choreoathetosis	Often (30–79%)
Hyperactive movements	Often (30–79%)
Involuntary movements	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Difficulty articulating speech	Not recorded
Myokymia	Not recorded
Paroxysmal dystonia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Decrease in jaw mobility	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)
Facial grimacing	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized muscle weakness	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Not recorded

Abnormality of the eye

Trait	How often it is seen
Staring gaze	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Sometimes (5–29%)

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

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