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Egenskap
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.
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of head or neck
Midface retrusionHP:0011800
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Read the genes linked to Midface retrusion, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test310 gener knyttet til Midface retrusion
Endringer i disse genene forårsaker sjeldne tilstander der Midface retrusion forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 2 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ATRXATRX chromatin remodeler | Alltid | I 3 tilstander |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 3 tilstander |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Alltid | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alltid | I 1 tilstand |
| BUD13BUD13 spliceosome associated protein | Alltid | I 1 tilstand |
| CDC42cell division cycle 42 | Alltid | I 2 tilstander |
| CHST3carbohydrate sulfotransferase 3 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Alltid | I 3 tilstander |
| COL11A2collagen type XI alpha 2 chain | Alltid | I 4 tilstander |
| COL27A1collagen type XXVII alpha 1 chain | Alltid | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Alltid | I 3 tilstander |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
| CUL7cullin 7 | Alltid | I 2 tilstander |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 3 tilstander |
| DVL3dishevelled segment polarity protein 3 | Alltid | I 2 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 14 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 6 tilstander |
| GGCXgamma-glutamyl carboxylase | Alltid | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Alltid | I 1 tilstand |
| HOXB1homeobox B1 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KIF22kinesin family member 22 | Alltid | I 2 tilstander |
| KMT2Dlysine methyltransferase 2D | Alltid | I 2 tilstander |
| LINS1lines homolog 1 | Alltid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Alltid | I 1 tilstand |
| MAFMAF bZIP transcription factor | Alltid | I 1 tilstand |
| MGPmatrix Gla protein | Alltid | I 2 tilstander |
| MIR140microRNA 140 | Alltid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Alltid | I 1 tilstand |
| NBNnibrin | Alltid | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Alltid | I 2 tilstander |
Vis 270 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alltid | I 2 tilstander |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Alltid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Alltid | I 1 tilstand |
| RAI1retinoic acid induced 1 | Alltid | I 2 tilstander |
| RPS28ribosomal protein S28 | Alltid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Alltid | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Alltid | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Alltid | I 2 tilstander |
| SF3B4splicing factor 3b subunit 4 | Alltid | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Alltid | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Alltid | I 1 tilstand |
| SMAD2SMAD family member 2 | Alltid | I 2 tilstander |
| SMAD4SMAD family member 4 | Alltid | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Alltid | I 1 tilstand |
| SP7Sp7 transcription factor | Alltid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Alltid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Alltid | I 1 tilstand |
| ACANaggrecan | Svært ofte (80–99 %) | I 4 tilstander |
| ANTXR1ANTXR cell adhesion molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Svært ofte (80–99 %) | I 2 tilstander |
| COX7Bcytochrome c oxidase subunit 7B | Svært ofte (80–99 %) | I 1 tilstand |
| CRTAPcartilage associated protein | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FLNBfilamin B | Svært ofte (80–99 %) | I 4 tilstander |
| FZD2frizzled class receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| LBRlamin B receptor | Svært ofte (80–99 %) | I 3 tilstander |
| LUZP1leucine zipper protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MMP23Bmatrix metallopeptidase 23B | Svært ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Svært ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| NXNnucleoredoxin | Svært ofte (80–99 %) | I 2 tilstander |
| OBSL1obscurin like cytoskeletal adaptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Svært ofte (80–99 %) | I 2 tilstander |
| PDPNpodoplanin | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| POLR1BRNA polymerase I subunit B | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Svært ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SONSON DNA and RNA binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Svært ofte (80–99 %) | I 2 tilstander |
| UBE4Bubiquitination factor E4B | Svært ofte (80–99 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Svært ofte (80–99 %) | I 2 tilstander |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ofte (30–79 %) | I 2 tilstander |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 6 tilstander |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 2 tilstander |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSKcathepsin K | Ofte (30–79 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstander |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 3 tilstander |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 2 tilstander |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| IL11RAinterleukin 11 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 2 tilstander |
| LEMD2LEM domain nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Ofte (30–79 %) | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 3 tilstander |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstander |
| RUNX2RUNX family transcription factor 2 | Ofte (30–79 %) | I 2 tilstander |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstander |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 2 tilstander |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 2 tilstander |
| ACTBactin beta | Noen ganger (5–29 %) | I 2 tilstander |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL1A1collagen type I alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL1A2collagen type I alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Noen ganger (5–29 %) | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| GDF11growth differentiation factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ITCHitchy E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 2 tilstander |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Noen ganger (5–29 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSMCE3NSE3 component of SMC5/6 complex | Noen ganger (5–29 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PKD2polycystin 2, transient receptor potential cation channel | Noen ganger (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM165transmembrane protein 165 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjelden (1–4%) | I 2 tilstander |
| HEPACAMhepatic and glial cell adhesion molecule | Sjelden (1–4%) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registrert | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ikke registrert | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registrert | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registrert | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ikke registrert | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CDH11cadherin 11 | Ikke registrert | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registrert | I 1 tilstand |
| CEP120centrosomal protein 120 | Ikke registrert | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registrert | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 2 tilstander |
| DSEdermatan sulfate epimerase | Ikke registrert | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ikke registrert | I 1 tilstand |
| ELNelastin | Ikke registrert | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ikke registrert | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registrert | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registrert | I 1 tilstand |
| LMNAlamin A/C | Ikke registrert | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Ikke registrert | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MESDmesoderm development LRP chaperone | Ikke registrert | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ikke registrert | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registrert | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registrert | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registrert | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registrert | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registrert | I 1 tilstand |
| PTCH1patched 1 | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Ikke registrert | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ikke registrert | I 1 tilstand |
| SATB2SATB homeobox 2 | Ikke registrert | I 1 tilstand |
| SERPINH1serpin family H member 1 | Ikke registrert | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registrert | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registrert | I 1 tilstand |
| SOSTsclerostin | Ikke registrert | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registrert | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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