Trait
Midface retrusion
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Summary
- Also called
- Decreased projection of midface, Decreased size of midface, Midface deficiency, Small midface, Underdevelopment of midface, Flat midface, Hypoplasia of midface, Midface hypoplasia, Midface, flat, Retrusive midface
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test310 genes linked to Midface retrusion
Changes in these genes cause rare conditions in which Midface retrusion 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Always | In 2 conditions |
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| ATRXATRX chromatin remodeler | Always | In 3 conditions |
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 3 conditions |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Always | In 1 condition |
| BANF1barrier to autointegration nuclear assembly factor 1 | Always | In 1 condition |
| BUD13BUD13 spliceosome associated protein | Always | In 1 condition |
| CDC42cell division cycle 42 | Always | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Always | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Always | In 3 conditions |
| COL11A2collagen type XI alpha 2 chain | Always | In 4 conditions |
| COL27A1collagen type XXVII alpha 1 chain | Always | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Always | In 3 conditions |
| COX15cytochrome c oxidase assembly factor COX15 | Always | In 1 condition |
| CUL7cullin 7 | Always | In 2 conditions |
| DVL1dishevelled segment polarity protein 1 | Always | In 3 conditions |
| DVL3dishevelled segment polarity protein 3 | Always | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Always | In 14 conditions |
| FGFR3fibroblast growth factor receptor 3 | Always | In 6 conditions |
| GGCXgamma-glutamyl carboxylase | Always | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Always | In 1 condition |
| HOXB1homeobox B1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IFT52intraflagellar transport 52 | Always | In 1 condition |
| IKZF2IKAROS family zinc finger 2 | Always | In 1 condition |
| IREB2iron responsive element binding protein 2 | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KDM6Alysine demethylase 6A | Always | In 1 condition |
| KIF22kinesin family member 22 | Always | In 2 conditions |
| KMT2Dlysine methyltransferase 2D | Always | In 2 conditions |
| LINS1lines homolog 1 | Always | In 1 condition |
| MAD1L1mitotic arrest deficient 1 like 1 | Always | In 1 condition |
| MAFMAF bZIP transcription factor | Always | In 1 condition |
| MGPmatrix Gla protein | Always | In 2 conditions |
| MIR140microRNA 140 | Always | In 1 condition |
| MRPS14mitochondrial ribosomal protein S14 | Always | In 1 condition |
| NBNnibrin | Always | In 1 condition |
| P4HBprolyl 4-hydroxylase subunit beta | Always | In 2 conditions |
Show 270 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 2 conditions |
| PSMC1proteasome 26S subunit, ATPase 1 | Always | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Always | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Always | In 1 condition |
| RAC3Rac family small GTPase 3 | Always | In 1 condition |
| RAI1retinoic acid induced 1 | Always | In 2 conditions |
| RPS28ribosomal protein S28 | Always | In 1 condition |
| RYR1ryanodine receptor 1 | Always | In 1 condition |
| SEC23ASEC23 homolog A, COPII component | Always | In 1 condition |
| SEC24DSEC24 homolog D, COPII component | Always | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Always | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Always | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Always | In 1 condition |
| SMAD2SMAD family member 2 | Always | In 2 conditions |
| SMAD4SMAD family member 4 | Always | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 1 condition |
| SOX9SRY-box transcription factor 9 | Always | In 1 condition |
| SP7Sp7 transcription factor | Always | In 1 condition |
| TGFB3transforming growth factor beta 3 | Always | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Always | In 1 condition |
| ZNF407zinc finger protein 407 | Always | In 1 condition |
| ACANaggrecan | Very often (80–99%) | In 4 conditions |
| ANTXR1ANTXR cell adhesion molecule 1 | Very often (80–99%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CBLCbl proto-oncogene | Very often (80–99%) | In 1 condition |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Very often (80–99%) | In 2 conditions |
| COX7Bcytochrome c oxidase subunit 7B | Very often (80–99%) | In 1 condition |
| CRTAPcartilage associated protein | Very often (80–99%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 3 conditions |
| FLNBfilamin B | Very often (80–99%) | In 4 conditions |
| FZD2frizzled class receptor 2 | Very often (80–99%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| HCCSholocytochrome c synthase | Very often (80–99%) | In 1 condition |
| HDAC4histone deacetylase 4 | Very often (80–99%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| LBRlamin B receptor | Very often (80–99%) | In 3 conditions |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Very often (80–99%) | In 2 conditions |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| MN1MN1 proto-oncogene, transcriptional regulator | Very often (80–99%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NFIXnuclear factor I X | Very often (80–99%) | In 2 conditions |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| NXNnucleoredoxin | Very often (80–99%) | In 2 conditions |
| OBSL1obscurin like cytoskeletal adaptor 1 | Very often (80–99%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Very often (80–99%) | In 2 conditions |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Very often (80–99%) | In 2 conditions |
| POLR1BRNA polymerase I subunit B | Very often (80–99%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Very often (80–99%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Very often (80–99%) | In 1 condition |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Very often (80–99%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Very often (80–99%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Very often (80–99%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Very often (80–99%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Very often (80–99%) | In 2 conditions |
| RRASRAS related | Very often (80–99%) | In 1 condition |
| RRAS2RAS related 2 | Very often (80–99%) | In 1 condition |
| SETBP1SET binding protein 1 | Very often (80–99%) | In 2 conditions |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 3 conditions |
| SONSON DNA and RNA binding protein | Very often (80–99%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Very often (80–99%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Very often (80–99%) | In 1 condition |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Very often (80–99%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Very often (80–99%) | In 2 conditions |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Very often (80–99%) | In 1 condition |
| WNT5AWnt family member 5A | Very often (80–99%) | In 2 conditions |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Often (30–79%) | In 2 conditions |
| BCL11ABCL11 transcription factor A | Often (30–79%) | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Often (30–79%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Often (30–79%) | In 1 condition |
| CHD1chromodomain helicase DNA binding protein 1 | Often (30–79%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 6 conditions |
| COL9A1collagen type IX alpha 1 chain | Often (30–79%) | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Often (30–79%) | In 2 conditions |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Often (30–79%) | In 1 condition |
| CTSKcathepsin K | Often (30–79%) | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Often (30–79%) | In 1 condition |
| DLX4distal-less homeobox 4 | Often (30–79%) | In 1 condition |
| DPH5diphthamide biosynthesis 5 | Often (30–79%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 2 conditions |
| EHMT1euchromatic histone lysine methyltransferase 1 | Often (30–79%) | In 3 conditions |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Often (30–79%) | In 1 condition |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Often (30–79%) | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Often (30–79%) | In 1 condition |
| FOXC1forkhead box C1 | Often (30–79%) | In 2 conditions |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Often (30–79%) | In 1 condition |
| IFT81intraflagellar transport 81 | Often (30–79%) | In 1 condition |
| IL11RAinterleukin 11 receptor subunit alpha | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Often (30–79%) | In 2 conditions |
| LEMD2LEM domain nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 1 condition |
| LOXL3lysyl oxidase like 3 | Often (30–79%) | In 1 condition |
| LRRC32leucine rich repeat containing 32 | Often (30–79%) | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Often (30–79%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Often (30–79%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Often (30–79%) | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| NKAPNFKB activating protein | Often (30–79%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Often (30–79%) | In 1 condition |
| PITX2paired like homeodomain 2 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 2 conditions |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Often (30–79%) | In 3 conditions |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PRR12proline rich 12 | Often (30–79%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Often (30–79%) | In 1 condition |
| PTENphosphatase and tensin homolog | Often (30–79%) | In 2 conditions |
| PYCR1pyrroline-5-carboxylate reductase 1 | Often (30–79%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| RMP64ribonuclease MRP subunit p64 | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 2 conditions |
| RUNX2RUNX family transcription factor 2 | Often (30–79%) | In 2 conditions |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Often (30–79%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| TLK2tousled like kinase 2 | Often (30–79%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 2 conditions |
| UBE2Aubiquitin conjugating enzyme E2 A | Often (30–79%) | In 2 conditions |
| WASF1WASP family member 1 | Often (30–79%) | In 1 condition |
| YME1L1YME1 like 1 ATPase | Often (30–79%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Often (30–79%) | In 2 conditions |
| ACTBactin beta | Sometimes (5–29%) | In 2 conditions |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 2 conditions |
| ANKRD17ankyrin repeat domain 17 | Sometimes (5–29%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Sometimes (5–29%) | In 1 condition |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Sometimes (5–29%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 1 condition |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| COL1A2collagen type I alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Sometimes (5–29%) | In 2 conditions |
| DDB1damage specific DNA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| ERFETS2 repressor factor | Sometimes (5–29%) | In 1 condition |
| FAM50Afamily with sequence similarity 50 member A | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 2 conditions |
| GDF11growth differentiation factor 11 | Sometimes (5–29%) | In 1 condition |
| GHRgrowth hormone receptor | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| H3-3BH3.3 histone B | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Sometimes (5–29%) | In 1 condition |
| IGF2insulin like growth factor 2 | Sometimes (5–29%) | In 2 conditions |
| ITCHitchy E3 ubiquitin protein ligase | Sometimes (5–29%) | In 2 conditions |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| KLHL20kelch like family member 20 | Sometimes (5–29%) | In 1 condition |
| LHX3LIM homeobox 3 | Sometimes (5–29%) | In 1 condition |
| LHX4LIM homeobox 4 | Sometimes (5–29%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MIPEPmitochondrial intermediate peptidase | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 2 conditions |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| NSMCE3NSE3 component of SMC5/6 complex | Sometimes (5–29%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Sometimes (5–29%) | In 1 condition |
| PKD2polycystin 2, transient receptor potential cation channel | Sometimes (5–29%) | In 1 condition |
| PLP1proteolipid protein 1 | Sometimes (5–29%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sometimes (5–29%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Sometimes (5–29%) | In 1 condition |
| TCF12transcription factor 12 | Sometimes (5–29%) | In 1 condition |
| TMEM165transmembrane protein 165 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Sometimes (5–29%) | In 1 condition |
| TUBGCP2tubulin gamma complex component 2 | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| WDR26WD repeat domain 26 | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Rarely (1–4%) | In 2 conditions |
| HEPACAMhepatic and glial cell adhesion molecule | Rarely (1–4%) | In 1 condition |
| MSL2MSL complex subunit 2 | Rarely (1–4%) | In 1 condition |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Not recorded | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Not recorded | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Not recorded | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Not recorded | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Not recorded | In 1 condition |
| BICD2BICD cargo adaptor 2 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CDH11cadherin 11 | Not recorded | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| CHD3chromodomain helicase DNA binding protein 3 | Not recorded | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Not recorded | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Not recorded | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 2 conditions |
| DSEdermatan sulfate epimerase | Not recorded | In 1 condition |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Not recorded | In 1 condition |
| ELNelastin | Not recorded | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Not recorded | In 1 condition |
| FAT4FAT atypical cadherin 4 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| FOXG1forkhead box G1 | Not recorded | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Not recorded | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| HSPA9heat shock protein family A (Hsp70) member 9 | Not recorded | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| LMNAlamin A/C | Not recorded | In 1 condition |
| LRP2LDL receptor related protein 2 | Not recorded | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MESDmesoderm development LRP chaperone | Not recorded | In 1 condition |
| MLXIPLMLX interacting protein like | Not recorded | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Not recorded | In 1 condition |
| NF1neurofibromin 1 | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Not recorded | In 1 condition |
| POP1POP1 ribonuclease P/MRP subunit | Not recorded | In 1 condition |
| PTCH1patched 1 | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Not recorded | In 1 condition |
| RNU12RNA, U12 small nuclear | Not recorded | In 1 condition |
| SATB2SATB homeobox 2 | Not recorded | In 1 condition |
| SERPINH1serpin family H member 1 | Not recorded | In 1 condition |
| SHHsonic hedgehog signaling molecule | Not recorded | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Not recorded | In 1 condition |
| SOSTsclerostin | Not recorded | In 1 condition |
| STAC3SH3 and cysteine rich domain 3 | Not recorded | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | Not recorded | In 1 condition |
| WDR73WD repeat domain 73 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | 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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