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Traits
Traits linked to PIGK
phosphatidylinositol glycan anchor biosynthesis class K
The Human Phenotype Ontology links 15 traits to PIGK, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Dental crowding | Not recorded |
| High frontal hairline | Not recorded |
| Limited hair on end of eyebrow | Not recorded |
| Long face | Not recorded |
| Prominent forehead | Not recorded |
| Thin red part of the upper lip | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Always |
| Degeneration of cerebellum | Very often (80–99%) |
| Ataxia | Often (30–79%) |
| Epilepsy | Often (30–79%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased expression of GPI-anchored proteins on the cell surface | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Short fingers or toes | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Prominent antitragus | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Generalized decreased muscle tone | Always |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Decreased serum alkaline phosphatase | 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 PIGK and how often each is seen. Find out more at hpo.jax.org.
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