Trait
Smaller or shorter than typical limbs
Clinical name: Micromelia
The presence of abnormally small extremities.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Smaller or shorter than typical limbs, and the rest of your genome, with one test.
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Get my Genome Test95 genes linked to Smaller or shorter than typical limbs
Changes in these genes cause rare conditions in which Smaller or shorter than typical limbs 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 |
|---|---|---|
| CILK1ciliogenesis associated kinase 1 | Always | In 2 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Always | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Always | In 4 conditions |
| HHAThedgehog acyltransferase | Always | In 2 conditions |
| IFT43intraflagellar transport 43 | Always | In 1 condition |
| NBASNBAS subunit of NRZ tethering complex | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 4 conditions |
| ACANaggrecan | Very often (80–99%) | In 1 condition |
| ACTBactin beta | Very often (80–99%) | In 2 conditions |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Very often (80–99%) | In 2 conditions |
| BRD4bromodomain containing 4 | Very often (80–99%) | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Very often (80–99%) | In 1 condition |
| CEP120centrosomal protein 120 | Very often (80–99%) | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 3 conditions |
| DVL1dishevelled segment polarity protein 1 | Very often (80–99%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Very often (80–99%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Very often (80–99%) | In 2 conditions |
| DYNC2I1dynein 2 intermediate chain 1 | Very often (80–99%) | In 2 conditions |
| DYNC2I2dynein 2 intermediate chain 2 | Very often (80–99%) | In 2 conditions |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Very often (80–99%) | In 2 conditions |
| EVCEvC ciliary complex subunit 1 | Very often (80–99%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Very often (80–99%) | In 1 condition |
| FLNBfilamin B | Very often (80–99%) | In 1 condition |
| FZD2frizzled class receptor 2 | Very often (80–99%) | In 1 condition |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 2 conditions |
| GLI1GLI family zinc finger 1 | Very often (80–99%) | In 1 condition |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 4 conditions |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Very often (80–99%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Very often (80–99%) | In 1 condition |
| IFT140intraflagellar transport 140 | Very often (80–99%) | In 1 condition |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 1 condition |
| IFT80intraflagellar transport 80 | Very often (80–99%) | In 2 conditions |
| IHHIndian hedgehog signaling molecule | Very often (80–99%) | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 1 condition |
| KIAA0753KIAA0753 | Very often (80–99%) | In 1 condition |
| LBRlamin B receptor | Very often (80–99%) | In 2 conditions |
Show 55 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LIFRLIF receptor subunit alpha | Very often (80–99%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Very often (80–99%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Very often (80–99%) | In 2 conditions |
| PCNTpericentrin | Very often (80–99%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Very often (80–99%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Very often (80–99%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 2 conditions |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 2 conditions |
| SHOXSHOX homeobox | Very often (80–99%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 5 conditions |
| SLC35D1solute carrier family 35 member D1 | Very often (80–99%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Very often (80–99%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 1 condition |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Very often (80–99%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Very often (80–99%) | In 1 condition |
| WDR19WD repeat domain 19 | Very often (80–99%) | In 1 condition |
| WDR35WD repeat domain 35 | Very often (80–99%) | In 2 conditions |
| WNT5AWnt family member 5A | Very often (80–99%) | In 1 condition |
| WNT7AWnt family member 7A | Very often (80–99%) | In 1 condition |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Often (30–79%) | In 1 condition |
| CD96CD96 molecule | Often (30–79%) | In 2 conditions |
| CUL7cullin 7 | Often (30–79%) | In 1 condition |
| GLULglutamate-ammonia ligase | Often (30–79%) | In 1 condition |
| GPC6glypican 6 | Often (30–79%) | In 1 condition |
| IFT81intraflagellar transport 81 | Often (30–79%) | In 1 condition |
| KIAA0586KIAA0586 | Often (30–79%) | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Often (30–79%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sometimes (5–29%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Sometimes (5–29%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| LRP4LDL receptor related protein 4 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CRTAPcartilage associated protein | Not recorded | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Not recorded | In 1 condition |
| MATN3matrilin 3 | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| SERPINH1serpin family H member 1 | Not recorded | In 1 condition |
| SMOsmoothened, frizzled class receptor | 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.
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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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