Træk
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Resumé
- Også kaldet
- Deformity of face, Distortion of face, Funny looking face, Malformation of face, Unusual facial appearance, Abnormal morphology of the face, Distinctive facies, Dysmorphic facial features, Dysmorphic facies, Facial dysmorphism, Unusual facies
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
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Bestil min Genome Test322 gener knyttet til Abnormal facial shape
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal facial shape ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CACHD1cache domain containing 1 | Altid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Altid | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Altid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Altid | I 3 tilstande |
| FLNAfilamin A | Altid | I 3 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GINS1GINS complex subunit 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 2 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 2 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 2 tilstande |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Altid | I 1 tilstand |
| RPL10ribosomal protein L10 | Altid | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altid | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Altid | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Meget ofte (80–99 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Meget ofte (80–99 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Meget ofte (80–99 %) | I 2 tilstande |
| BRF1BRF1 general transcription factor IIIB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Meget ofte (80–99 %) | I 2 tilstande |
| CDK8cyclin dependent kinase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| CTNNB1catenin beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Meget ofte (80–99 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Meget ofte (80–99 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 282 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERMARDER membrane associated RNA degradation | Meget ofte (80–99 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Meget ofte (80–99 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Meget ofte (80–99 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Meget ofte (80–99 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Meget ofte (80–99 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Meget ofte (80–99 %) | I 2 tilstande |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 3 tilstande |
| MAN1B1mannosidase alpha class 1B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MANBAmannosidase beta | Meget ofte (80–99 %) | I 2 tilstande |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NDE1nudE neurodevelopment protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEPDpeptidase D | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Meget ofte (80–99 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Meget ofte (80–99 %) | I 1 tilstand |
| RELNreelin | Meget ofte (80–99 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Meget ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RTTNrotatin | Meget ofte (80–99 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SEC24CSEC24 homolog C, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SIN3ASIN3 transcription regulator family member A | Meget ofte (80–99 %) | I 1 tilstand |
| SIN3BSIN3 transcription regulator family member B | Meget ofte (80–99 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Meget ofte (80–99 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Meget ofte (80–99 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Meget ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Meget ofte (80–99 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Meget ofte (80–99 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Meget ofte (80–99 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Meget ofte (80–99 %) | I 2 tilstande |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 1 tilstand |
| YY1YY1 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ZNF699zinc finger protein 699 | Meget ofte (80–99 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 3 tilstande |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstande |
| ATP10AATPase phospholipid transporting 10A (putative) | Ofte (30–79 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ofte (30–79 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Ofte (30–79 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COG2component of oligomeric golgi complex 2 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 2 tilstande |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstande |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MIR17HGmiR-17-92a-1 cluster host gene | Ofte (30–79 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Ofte (30–79 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ofte (30–79 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 2 tilstande |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 2 tilstande |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 2 tilstande |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Ofte (30–79 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| PDHBpyruvate dehydrogenase E1 subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Ofte (30–79 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ofte (30–79 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstande |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Ofte (30–79 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Ofte (30–79 %) | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 4 tilstande |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TALDO1transaldolase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 2 tilstande |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCL1clathrin heavy chain like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM260transmembrane protein 260 | Nogle gange (5–29 %) | I 1 tilstand |
| TTNtitin | Nogle gange (5–29 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Nogle gange (5–29 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Nogle gange (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| CIITAclass II major histocompatibility complex transactivator | Sjældent (1–4%) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Sjældent (1–4%) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sjældent (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjældent (1–4%) | I 1 tilstand |
| FLT4fms related receptor tyrosine kinase 4 | Sjældent (1–4%) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Sjældent (1–4%) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Sjældent (1–4%) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| JAK3Janus kinase 3 | Sjældent (1–4%) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Sjældent (1–4%) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Sjældent (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjældent (1–4%) | I 2 tilstande |
| RFX5regulatory factor X5 | Sjældent (1–4%) | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Sjældent (1–4%) | I 1 tilstand |
| RFXAPregulatory factor X associated protein | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Sjældent (1–4%) | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ikke registreret | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ikke registreret | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registreret | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registreret | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| HPSE2heparanase 2 (inactive) | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| KIF4Akinesin family member 4A | Ikke registreret | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registreret | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ikke registreret | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PHF21APHD finger protein 21A | Ikke registreret | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ikke registreret | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registreret | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| RPS17ribosomal protein S17 | Ikke registreret | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ikke registreret | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ikke registreret | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ikke registreret | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registreret | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
- Coarse facial features252 gener
- Triangular face189 gener
- Facial asymmetry153 gener
- Flat face115 gener
- Round face112 gener
- Elf-like facial appearance22 gener
- Small face20 gener
- Oval face19 gener
- Bird-like facial appearance18 gener
- Square face16 gener
- Moon face15 gener
- Large face11 gener
- Craniofacial disproportion6 gener
- Facial shape deformation6 gener
- Doll-like facial appearance4 gener
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger