Trait

Abnormal mitral valve morphology

Any structural anomaly of the mitral valve.

Also called: Abnormality of the mitral valve
Body system: Abnormality of the cardiovascular system

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19 genes linked to Abnormal mitral valve morphology

Changes in these genes cause rare conditions in which Abnormal mitral valve morphology 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
BRAFB-Raf proto-oncogene, serine/threonine kinase	Often (30–79%)	In 2 conditions
CCDC22CCC complex scaffolding subunit CCDC22	Often (30–79%)	In 1 condition
DPYSL5dihydropyrimidinase like 5	Often (30–79%)	In 1 condition
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Often (30–79%)	In 1 condition
LMNAlamin A/C	Often (30–79%)	In 1 condition
PTPN11protein tyrosine phosphatase non-receptor type 11	Often (30–79%)	In 1 condition
RAF1Raf-1 proto-oncogene, serine/threonine kinase	Often (30–79%)	In 1 condition
VPS35LVPS35 endosomal protein sorting factor like	Often (30–79%)	In 1 condition
WASHC5WASH complex subunit 5	Often (30–79%)	In 1 condition
ZMPSTE24zinc metallopeptidase STE24	Often (30–79%)	In 1 condition
ACTC1actin alpha cardiac muscle 1	Sometimes (5–29%)	In 1 condition
CITED2Cbp/p300 interacting transactivator with ED-rich tail 2	Sometimes (5–29%)	In 1 condition
GATA4GATA binding protein 4	Sometimes (5–29%)	In 1 condition
GATA6GATA binding protein 6	Sometimes (5–29%)	In 1 condition
MYH6myosin heavy chain 6	Sometimes (5–29%)	In 1 condition
NKX2-5NK2 homeobox 5	Sometimes (5–29%)	In 1 condition
RPS6KA3ribosomal protein S6 kinase A3	Sometimes (5–29%)	In 1 condition
TBX20T-box transcription factor 20	Sometimes (5–29%)	In 1 condition
TLL1tolloid like 1	Sometimes (5–29%)	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.

Narrower traits

Broader traits

Abnormal atrioventricular valve morphology

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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