Trait
Lower limb hypertonia
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Lower limb hypertonia, and the rest of your genome, with one test.
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Get my Genome Test46 genes linked to Lower limb hypertonia
Changes in these genes cause rare conditions in which Lower limb hypertonia 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 |
|---|---|---|
| CLDN11claudin 11 | Always | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KIDINS220kinase D interacting substrate 220 | Always | In 1 condition |
| KIF5Akinesin family member 5A | Always | In 1 condition |
| LBRlamin B receptor | Always | In 1 condition |
| MALmal, T cell differentiation protein (MAL blood group) | Always | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| RTN2reticulon 2 | Always | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TUBA4Atubulin alpha 4a | Always | In 1 condition |
| VPS37AVPS37A subunit of ESCRT-I | Always | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Very often (80–99%) | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Very often (80–99%) | In 2 conditions |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Often (30–79%) | In 1 condition |
| GDAP2ganglioside induced differentiation associated protein 2 | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| MTPAPmitochondrial poly(A) polymerase | Often (30–79%) | In 2 conditions |
| RARS1arginyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Often (30–79%) | In 1 condition |
| KDM1Alysine demethylase 1A | Sometimes (5–29%) | In 2 conditions |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Sometimes (5–29%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sometimes (5–29%) | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sometimes (5–29%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sometimes (5–29%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Sometimes (5–29%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Sometimes (5–29%) | In 1 condition |
Show 6 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TSEN34tRNA splicing endonuclease subunit 34 | Sometimes (5–29%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Sometimes (5–29%) | In 1 condition |
| ATL1atlastin GTPase 1 | Rarely (1–4%) | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| KDM5Clysine demethylase 5C | 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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