Trait
Absent muscles since birth
Clinical name: Amyoplasia
Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.
Summary
- Also called
- Congenital absence of muscles
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Absent muscles since birth, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test4 genes linked to Absent muscles since birth
Changes in these genes cause rare conditions in which Absent muscles since birth 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 |
|---|---|---|
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNDcholinergic receptor nicotinic delta subunit | Not recorded | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | 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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks