Trait
Kinked brainstem
A kinked appearance of the brainstem, i.e., an exaggerated flexure.
Summary
- Also called
- Kinked brain stem
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test6 genes linked to Kinked brainstem
Changes in these genes cause rare conditions in which Kinked brainstem is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| FKTNfukutin | Often (30–79%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
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.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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