Trait

Weak diaphragm

Clinical name: Diaphragmatic weakness

A decrease in the strength of the diaphragm.

HPO HP:0009113

Also called: Diaphragmatic paraparesis
Body system: Abnormality of the musculoskeletal system

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13 genes linked to Weak diaphragm

Changes in these genes cause rare conditions in which Weak diaphragm 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
DNAJB4DnaJ heat shock protein family (Hsp40) member B4	Always	In 1 condition
CHRNA1cholinergic receptor nicotinic alpha 1 subunit	Often (30–79%)	In 1 condition
COL12A1collagen type XII alpha 1 chain	Often (30–79%)	In 1 condition
COL6A1collagen type VI alpha 1 chain	Often (30–79%)	In 1 condition
COL6A2collagen type VI alpha 2 chain	Often (30–79%)	In 1 condition
COL6A3collagen type VI alpha 3 chain	Often (30–79%)	In 1 condition
RFC4replication factor C subunit 4	Often (30–79%)	In 1 condition
PMP22peripheral myelin protein 22	Sometimes (5–29%)	In 1 condition
IGHMBP2immunoglobulin mu DNA binding protein 2	Not recorded	In 1 condition
MEGF10multiple EGF like domains 10	Not recorded	In 1 condition
SLC52A3solute carrier family 52 member 3	Not recorded	In 2 conditions
TRPV4transient receptor potential cation channel subfamily V member 4	Not recorded	In 2 conditions
TTNtitin	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.

Narrower traits

Diaphragmatic paralysis7 genes

Broader traits

Muscle weakness

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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