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Trait
Severe short stature
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Summary
- Also called
- Short stature, severe, Short stature, extreme
- Body system
- Growth abnormality
Severe short statureHP:0003510
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Read the genes linked to Severe short stature, and the rest of your genome, with one test.
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Get my Genome Test105 genes linked to Severe short stature
Changes in these genes cause rare conditions in which Severe short stature 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 |
|---|---|---|
| ANTXR1ANTXR cell adhesion molecule 1 | Always | In 1 condition |
| ATP11AATPase phospholipid transporting 11A | Always | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 1 condition |
| CENPTcentromere protein T | Always | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Always | In 1 condition |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Always | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Always | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Always | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Always | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Always | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Always | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 1 condition |
| GH1growth hormone 1 | Always | In 2 conditions |
| GHRHRgrowth hormone releasing hormone receptor | Always | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Always | In 2 conditions |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Always | In 1 condition |
| GUSBglucuronidase beta | Always | In 1 condition |
| HHAThedgehog acyltransferase | Always | In 2 conditions |
| INPPL1inositol polyphosphate phosphatase like 1 | Always | In 2 conditions |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Always | In 1 condition |
| NINninein | Always | In 1 condition |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Always | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Always | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Always | In 1 condition |
| PTCD3pentatricopeptide repeat domain 3 | Always | In 1 condition |
| RMP64ribonuclease MRP subunit p64 | Always | In 1 condition |
| RPL13ribosomal protein L13 | Always | In 1 condition |
| STAT5Bsignal transducer and activator of transcription 5B | Always | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 4 conditions |
| XYLT1xylosyltransferase 1 | Always | In 2 conditions |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Very often (80–99%) | In 2 conditions |
| CDC45cell division cycle 45 | Very often (80–99%) | In 1 condition |
| CDC6cell division cycle 6 | Very often (80–99%) | In 1 condition |
| CDT1chromatin licensing and DNA replication factor 1 | Very often (80–99%) | In 1 condition |
| CKAP2Lcytoskeleton associated protein 2L | Very often (80–99%) | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Very often (80–99%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Very often (80–99%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Very often (80–99%) | In 1 condition |
| FBN1fibrillin 1 | Very often (80–99%) | In 2 conditions |
Show 65 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GHRgrowth hormone receptor | Very often (80–99%) | In 2 conditions |
| GORABgolgin, RAB6 interacting | Very often (80–99%) | In 2 conditions |
| KAT6Blysine acetyltransferase 6B | Very often (80–99%) | In 1 condition |
| KDM6Alysine demethylase 6A | Very often (80–99%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Very often (80–99%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Very often (80–99%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 1 condition |
| ORC1origin recognition complex subunit 1 | Very often (80–99%) | In 1 condition |
| ORC4origin recognition complex subunit 4 | Very often (80–99%) | In 1 condition |
| ORC6origin recognition complex subunit 6 | Very often (80–99%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Very often (80–99%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Very often (80–99%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 1 condition |
| SMAD4SMAD family member 4 | Very often (80–99%) | In 1 condition |
| TBX6T-box transcription factor 6 | Very often (80–99%) | In 2 conditions |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 3 conditions |
| COX7Bcytochrome c oxidase subunit 7B | Often (30–79%) | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Often (30–79%) | In 1 condition |
| DLX5distal-less homeobox 5 | Often (30–79%) | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Often (30–79%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Often (30–79%) | In 1 condition |
| DYMdymeclin | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 2 conditions |
| FZD2frizzled class receptor 2 | Often (30–79%) | In 1 condition |
| HCCSholocytochrome c synthase | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 2 conditions |
| IGF1Rinsulin like growth factor 1 receptor | Often (30–79%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Often (30–79%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| RTTNrotatin | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Often (30–79%) | In 1 condition |
| WNT5AWnt family member 5A | Often (30–79%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Sometimes (5–29%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 2 conditions |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| SGMS2sphingomyelin synthase 2 | Rarely (1–4%) | In 1 condition |
| COMPcartilage oligomeric matrix protein | Not recorded | In 1 condition |
| CTSAcathepsin A | Not recorded | In 1 condition |
| DLL3delta like canonical Notch ligand 3 | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| GLB1galactosidase beta 1 | Not recorded | In 1 condition |
| HSPA9heat shock protein family A (Hsp70) member 9 | Not recorded | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| MESP2mesoderm posterior bHLH transcription factor 2 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Not recorded | In 1 condition |
| PTH1Rparathyroid hormone 1 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.
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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Log InAskGet Startedfrom $449
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks