Trait
Spastic diplegia
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Summary
- Also called
- Spastic diparesis, Spastic diplegic
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test57 genes linked to Spastic diplegia
Changes in these genes cause rare conditions in which Spastic diplegia 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 |
|---|---|---|
| CFAP20cilia and flagella associated protein 20 | Always | In 1 condition |
| ELP2elongator acetyltransferase complex subunit 2 | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Always | In 2 conditions |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 2 conditions |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Often (30–79%) | In 2 conditions |
| ATP13A2ATPase cation transporting 13A2 | Often (30–79%) | In 1 condition |
| DARS1aspartyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 1 condition |
| GALCgalactosylceramidase | Often (30–79%) | In 2 conditions |
| GLRX5glutaredoxin 5 | Often (30–79%) | In 2 conditions |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Often (30–79%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Often (30–79%) | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Often (30–79%) | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Often (30–79%) | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Often (30–79%) | In 1 condition |
| SORDsorbitol dehydrogenase | Often (30–79%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Often (30–79%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Often (30–79%) | In 1 condition |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 2 conditions |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 1 condition |
| TRMT2BtRNA methyltransferase 2B | Often (30–79%) | In 1 condition |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Sometimes (5–29%) | In 2 conditions |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| FLNAfilamin A | Sometimes (5–29%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
Show 17 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Sometimes (5–29%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Rarely (1–4%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Not recorded | In 1 condition |
| ADD3adducin 3 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| COXFA4cytochrome c oxidase associated subunit FA4 | Not recorded | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| PNPpurine nucleoside phosphorylase | Not recorded | In 1 condition |
| SIX6SIX homeobox 6 | Not recorded | In 1 condition |
| SOX2SRY-box transcription factor 2 | 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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