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Požymis
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Santrauka
- Taip pat vadinama
- 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
- Kūno sistema
- Abnormality of head or neck
Abnormal facial shapeHP:0001999
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PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Abnormal facial shape, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test322 genų susiję su Abnormal facial shape
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal facial shape. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CACHD1cache domain containing 1 | Visada | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| DHRSXdehydrogenase/reductase X-linked | Visada | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Visada | 3 ligose |
| FLNAfilamin A | Visada | 3 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| GINS1GINS complex subunit 1 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 2 ligose |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Visada | 2 ligose |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| RPL10ribosomal protein L10 | Visada | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SSR4signal sequence receptor subunit 4 | Visada | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Labai dažnai (80–99%) | 1 ligoje |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 1 ligoje |
| AGAaspartylglucosaminidase | Labai dažnai (80–99%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Labai dažnai (80–99%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Labai dažnai (80–99%) | 1 ligoje |
| BCAP31B cell receptor associated protein 31 | Labai dažnai (80–99%) | 2 ligose |
| BRF1BRF1 general transcription factor IIIB subunit | Labai dažnai (80–99%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| CDC42cell division cycle 42 | Labai dažnai (80–99%) | 2 ligose |
| CDK8cyclin dependent kinase 8 | Labai dažnai (80–99%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Labai dažnai (80–99%) | 2 ligose |
| CTNNB1catenin beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Labai dažnai (80–99%) | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Labai dažnai (80–99%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Labai dažnai (80–99%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Labai dažnai (80–99%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Labai dažnai (80–99%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Labai dažnai (80–99%) | 2 ligose |
| EBF3EBF transcription factor 3 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 282 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Labai dažnai (80–99%) | 3 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Labai dažnai (80–99%) | 3 ligose |
| ERMARDER membrane associated RNA degradation | Labai dažnai (80–99%) | 1 ligoje |
| FBXO22F-box protein 22 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Labai dažnai (80–99%) | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| GHRgrowth hormone receptor | Labai dažnai (80–99%) | 1 ligoje |
| GLB1galactosidase beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Labai dažnai (80–99%) | 1 ligoje |
| IGF1insulin like growth factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Labai dažnai (80–99%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Labai dažnai (80–99%) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Labai dažnai (80–99%) | 2 ligose |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 3 ligose |
| MAN1B1mannosidase alpha class 1B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| MANBAmannosidase beta | Labai dažnai (80–99%) | 2 ligose |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Labai dažnai (80–99%) | 1 ligoje |
| MEG3maternally expressed 3 | Labai dažnai (80–99%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| MMP14matrix metallopeptidase 14 | Labai dažnai (80–99%) | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Labai dažnai (80–99%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Labai dažnai (80–99%) | 2 ligose |
| NDE1nudE neurodevelopment protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| NFIXnuclear factor I X | Labai dažnai (80–99%) | 1 ligoje |
| NOTCH2notch receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEPDpeptidase D | Labai dažnai (80–99%) | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Labai dažnai (80–99%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Labai dažnai (80–99%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Labai dažnai (80–99%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Labai dažnai (80–99%) | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Labai dažnai (80–99%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 1 ligoje |
| RDH11retinol dehydrogenase 11 | Labai dažnai (80–99%) | 1 ligoje |
| RELNreelin | Labai dažnai (80–99%) | 1 ligoje |
| RNF135ring finger protein 135 | Labai dažnai (80–99%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Labai dažnai (80–99%) | 1 ligoje |
| RTTNrotatin | Labai dažnai (80–99%) | 1 ligoje |
| SATB2SATB homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| SEC24CSEC24 homolog C, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Labai dažnai (80–99%) | 2 ligose |
| SIN3ASIN3 transcription regulator family member A | Labai dažnai (80–99%) | 1 ligoje |
| SIN3BSIN3 transcription regulator family member B | Labai dažnai (80–99%) | 1 ligoje |
| SKIC2SKI2 subunit of superkiller complex | Labai dažnai (80–99%) | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Labai dažnai (80–99%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Labai dažnai (80–99%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Labai dažnai (80–99%) | 1 ligoje |
| TELO2telomere maintenance 2 | Labai dažnai (80–99%) | 1 ligoje |
| THOC6THO complex subunit 6 | Labai dažnai (80–99%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| TTI2TELO2 interacting protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Labai dažnai (80–99%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Labai dažnai (80–99%) | 2 ligose |
| WACWW domain containing adaptor with coiled-coil | Labai dažnai (80–99%) | 1 ligoje |
| YY1YY1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| ZNF699zinc finger protein 699 | Labai dažnai (80–99%) | 1 ligoje |
| AEBP1AE binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 3 ligose |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 2 ligose |
| ATP10AATPase phospholipid transporting 10A (putative) | Dažnai (30–79%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Dažnai (30–79%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Dažnai (30–79%) | 1 ligoje |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Dažnai (30–79%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Dažnai (30–79%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Dažnai (30–79%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COG2component of oligomeric golgi complex 2 | Dažnai (30–79%) | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Dažnai (30–79%) | 1 ligoje |
| CTCFCCCTC-binding factor | Dažnai (30–79%) | 1 ligoje |
| DHX9DExH-box helicase 9 | Dažnai (30–79%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Dažnai (30–79%) | 1 ligoje |
| FBLN5fibulin 5 | Dažnai (30–79%) | 2 ligose |
| FDXRferredoxin reductase | Dažnai (30–79%) | 1 ligoje |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Dažnai (30–79%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| HCCSholocytochrome c synthase | Dažnai (30–79%) | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Dažnai (30–79%) | 1 ligoje |
| KIF15kinesin family member 15 | Dažnai (30–79%) | 1 ligoje |
| KLF13KLF transcription factor 13 | Dažnai (30–79%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 2 ligose |
| LMBRD1LMBR1 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| MID1midline 1 | Dažnai (30–79%) | 1 ligoje |
| MIR17HGmiR-17-92a-1 cluster host gene | Dažnai (30–79%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Dažnai (30–79%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Dažnai (30–79%) | 1 ligoje |
| MYSM1Myb like, SWIRM and MPN domains 1 | Dažnai (30–79%) | 2 ligose |
| NDNnecdin, MAGE family member | Dažnai (30–79%) | 2 ligose |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Dažnai (30–79%) | 1 ligoje |
| NF1neurofibromin 1 | Dažnai (30–79%) | 2 ligose |
| NIPA1NIPA magnesium transporter 1 | Dažnai (30–79%) | 1 ligoje |
| NIPA2NIPA magnesium transporter 2 | Dažnai (30–79%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Dažnai (30–79%) | 1 ligoje |
| OPHN1oligophrenin 1 | Dažnai (30–79%) | 1 ligoje |
| PAHphenylalanine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Dažnai (30–79%) | 2 ligose |
| PDHBpyruvate dehydrogenase E1 subunit beta | Dažnai (30–79%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Dažnai (30–79%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Dažnai (30–79%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Dažnai (30–79%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Dažnai (30–79%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 2 ligose |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| POLD3DNA polymerase delta 3, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Dažnai (30–79%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Dažnai (30–79%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Dažnai (30–79%) | 1 ligoje |
| RNF168ring finger protein 168 | Dažnai (30–79%) | 2 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RPS6KC1ribosomal protein S6 kinase C1 | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 4 ligose |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Dažnai (30–79%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Dažnai (30–79%) | 2 ligose |
| TALDO1transaldolase 1 | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Dažnai (30–79%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Dažnai (30–79%) | 2 ligose |
| TUBG1tubulin gamma 1 | Dažnai (30–79%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 1 ligoje |
| CLTCL1clathrin heavy chain like 1 | Kartais (5–29%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Kartais (5–29%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Kartais (5–29%) | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Kartais (5–29%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| LHX3LIM homeobox 3 | Kartais (5–29%) | 1 ligoje |
| LHX4LIM homeobox 4 | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MTM1myotubularin 1 | Kartais (5–29%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 1 ligoje |
| PGM3phosphoglucomutase 3 | Kartais (5–29%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Kartais (5–29%) | 1 ligoje |
| PLXND1plexin D1 | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PSPHphosphoserine phosphatase | Kartais (5–29%) | 1 ligoje |
| RAC1Rac family small GTPase 1 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNF13ring finger protein 13 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Kartais (5–29%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Kartais (5–29%) | 1 ligoje |
| SMSspermine synthase | Kartais (5–29%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| STAG1STAG1 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TMEM260transmembrane protein 260 | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| TUBGCP4tubulin gamma complex component 4 | Kartais (5–29%) | 1 ligoje |
| VMA22vacuolar ATPase assembly factor VMA22 | Kartais (5–29%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Retai (1–4 %) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Retai (1–4 %) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 1 ligoje |
| CIITAclass II major histocompatibility complex transactivator | Retai (1–4 %) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Retai (1–4 %) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Retai (1–4 %) | 1 ligoje |
| FLT4fms related receptor tyrosine kinase 4 | Retai (1–4 %) | 1 ligoje |
| GJB2gap junction protein beta 2 | Retai (1–4 %) | 1 ligoje |
| GJB6gap junction protein beta 6 | Retai (1–4 %) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Retai (1–4 %) | 1 ligoje |
| JAK3Janus kinase 3 | Retai (1–4 %) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Retai (1–4 %) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Retai (1–4 %) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| NUP107nucleoporin 107 | Retai (1–4 %) | 2 ligose |
| RFX5regulatory factor X5 | Retai (1–4 %) | 1 ligoje |
| RFXANKregulatory factor X associated ankyrin containing protein | Retai (1–4 %) | 1 ligoje |
| RFXAPregulatory factor X associated protein | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Retai (1–4 %) | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Neužfiksuota | 1 ligoje |
| CHRNDcholinergic receptor nicotinic delta subunit | Neužfiksuota | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| CTDP1CTD phosphatase 1 | Neužfiksuota | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| EXOSC9exosome component 9 | Neužfiksuota | 1 ligoje |
| HPSE2heparanase 2 (inactive) | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| KIF4Akinesin family member 4A | Neužfiksuota | 1 ligoje |
| KIF7kinesin family member 7 | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Neužfiksuota | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PHF21APHD finger protein 21A | Neužfiksuota | 1 ligoje |
| PITX2paired like homeodomain 2 | Neužfiksuota | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Neužfiksuota | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| RPS17ribosomal protein S17 | Neužfiksuota | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Neužfiksuota | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Neužfiksuota | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Neužfiksuota | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
- Coarse facial features252 genų
- Triangular face189 genų
- Facial asymmetry153 genų
- Flat face115 genų
- Round face112 genų
- Elf-like facial appearance22 genų
- Small face20 genų
- Oval face19 genų
- Bird-like facial appearance18 genų
- Square face16 genų
- Moon face15 genų
- Large face11 genų
- Craniofacial disproportion6 genų
- Facial shape deformation6 genų
- Doll-like facial appearance4 genų
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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