Trait
Appendicular hypotonia
Muscular hypotonia of one or more limbs.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test27 genes linked to Appendicular hypotonia
Changes in these genes cause rare conditions in which Appendicular hypotonia 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 |
|---|---|---|
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CWF19L1CWF19 like cell cycle control factor 1 | Always | In 1 condition |
| FAM177A1family with sequence similarity 177 member A1 | Always | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Always | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| NAPBNSF attachment protein beta | Always | In 1 condition |
| NRROSnegative regulator of reactive oxygen species | Always | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Always | In 1 condition |
| PUM1pumilio RNA binding family member 1 | Always | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Always | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Often (30–79%) | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Often (30–79%) | In 1 condition |
| COG3component of oligomeric golgi complex 3 | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 1 condition |
| FBXO28F-box protein 28 | Often (30–79%) | In 1 condition |
| FNIP1folliculin interacting protein 1 | Often (30–79%) | In 1 condition |
| GEMIN5gem nuclear organelle associated protein 5 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Often (30–79%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Often (30–79%) | In 1 condition |
| DHX9DExH-box helicase 9 | Sometimes (5–29%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| LGI3leucine rich repeat LGI family member 3 | Sometimes (5–29%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Sometimes (5–29%) | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | 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.
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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