Traits

Traits linked to PRKD1

protein kinase D1

The Human Phenotype Ontology links 27 traits to PRKD1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Broad head shape	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Early loss of baby teeth	Often (30–79%)
Frontal bossing	Often (30–79%)
High frontal hairline	Often (30–79%)
Medial flaring of the eyebrow	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Widely spaced teeth	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Specific learning disability	Often (30–79%)
Global developmental delay	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad thumb	Often (30–79%)
Deep wrinkles in soles of feet	Often (30–79%)
Webbed skin of 2nd-3rd toes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Brittle nails	Often (30–79%)
Dry skin	Often (30–79%)
Thin skin	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in center of heart	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic 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 PRKD1 and how often each is seen. Find out more at hpo.jax.org.

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