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Kenmerk
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Samenvatting
- Ook bekend als
- 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
- Lichaamssysteem
- Abnormality of head or neck
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-facial-shape.json"
page <- fromJSON(url)
page$trait$nameAbnormal facial shapeHP:0001999
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Lees de genen die aan Abnormal facial shape gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen322 genen gekoppeld aan Abnormal facial shape
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormal facial shape voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CACHD1cache domain containing 1 | Altijd | In 1 aandoening |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DHRSXdehydrogenase/reductase X-linked | Altijd | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Altijd | In 3 aandoeningen |
| FLNAfilamin A | Altijd | In 3 aandoeningen |
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| GINS1GINS complex subunit 1 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 2 aandoeningen |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 2 aandoeningen |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 2 aandoeningen |
| RBSNrabenosyn, RAB effector | Altijd | In 1 aandoening |
| RNU6ATACRNA, U6atac small nuclear | Altijd | In 1 aandoening |
| RPL10ribosomal protein L10 | Altijd | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altijd | In 1 aandoening |
| SSR4signal sequence receptor subunit 4 | Altijd | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Heel vaak (80–99%) | In 1 aandoening |
| ADSLadenylosuccinate lyase | Heel vaak (80–99%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Heel vaak (80–99%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Heel vaak (80–99%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Heel vaak (80–99%) | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Heel vaak (80–99%) | In 2 aandoeningen |
| BRF1BRF1 general transcription factor IIIB subunit | Heel vaak (80–99%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| CDC42cell division cycle 42 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDK8cyclin dependent kinase 8 | Heel vaak (80–99%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| CTNNB1catenin beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Heel vaak (80–99%) | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Heel vaak (80–99%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Heel vaak (80–99%) | In 1 aandoening |
| DPH1diphthamide biosynthesis 1 | Heel vaak (80–99%) | In 1 aandoening |
| DPH2diphthamide biosynthesis 2 | Heel vaak (80–99%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| EBF3EBF transcription factor 3 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 282 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERMARDER membrane associated RNA degradation | Heel vaak (80–99%) | In 1 aandoening |
| FBXO22F-box protein 22 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Heel vaak (80–99%) | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| GHRgrowth hormone receptor | Heel vaak (80–99%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Heel vaak (80–99%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Heel vaak (80–99%) | In 1 aandoening |
| IGF1insulin like growth factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Heel vaak (80–99%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Heel vaak (80–99%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Heel vaak (80–99%) | In 1 aandoening |
| KMT2Clysine methyltransferase 2C | Heel vaak (80–99%) | In 2 aandoeningen |
| LAS1LLAS1 like ribosome biogenesis factor | Heel vaak (80–99%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Heel vaak (80–99%) | In 3 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Heel vaak (80–99%) | In 1 aandoening |
| MANBAmannosidase beta | Heel vaak (80–99%) | In 2 aandoeningen |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Heel vaak (80–99%) | In 1 aandoening |
| MEG3maternally expressed 3 | Heel vaak (80–99%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| MMP14matrix metallopeptidase 14 | Heel vaak (80–99%) | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Heel vaak (80–99%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDE1nudE neurodevelopment protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| NFIXnuclear factor I X | Heel vaak (80–99%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEPDpeptidase D | Heel vaak (80–99%) | In 1 aandoening |
| POLR1BRNA polymerase I subunit B | Heel vaak (80–99%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Heel vaak (80–99%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Heel vaak (80–99%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Heel vaak (80–99%) | In 1 aandoening |
| PTRH2peptidyl-tRNA hydrolase 2 | Heel vaak (80–99%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 1 aandoening |
| RDH11retinol dehydrogenase 11 | Heel vaak (80–99%) | In 1 aandoening |
| RELNreelin | Heel vaak (80–99%) | In 1 aandoening |
| RNF135ring finger protein 135 | Heel vaak (80–99%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RTTNrotatin | Heel vaak (80–99%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SEC24CSEC24 homolog C, COPII component | Heel vaak (80–99%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SIN3ASIN3 transcription regulator family member A | Heel vaak (80–99%) | In 1 aandoening |
| SIN3BSIN3 transcription regulator family member B | Heel vaak (80–99%) | In 1 aandoening |
| SKIC2SKI2 subunit of superkiller complex | Heel vaak (80–99%) | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Heel vaak (80–99%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Heel vaak (80–99%) | In 1 aandoening |
| STRADASTE20 related adaptor alpha | Heel vaak (80–99%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Heel vaak (80–99%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Heel vaak (80–99%) | In 1 aandoening |
| THOC6THO complex subunit 6 | Heel vaak (80–99%) | In 1 aandoening |
| TONSLtonsoku like, DNA repair protein | Heel vaak (80–99%) | In 1 aandoening |
| TRAPPC9trafficking protein particle complex subunit 9 | Heel vaak (80–99%) | In 1 aandoening |
| TTI2TELO2 interacting protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Heel vaak (80–99%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| WACWW domain containing adaptor with coiled-coil | Heel vaak (80–99%) | In 1 aandoening |
| YY1YY1 transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZNF699zinc finger protein 699 | Heel vaak (80–99%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Vaak (30–79%) | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 3 aandoeningen |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 2 aandoeningen |
| ATP10AATPase phospholipid transporting 10A (putative) | Vaak (30–79%) | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Vaak (30–79%) | In 1 aandoening |
| BCKDKbranched chain keto acid dehydrogenase kinase | Vaak (30–79%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Vaak (30–79%) | In 1 aandoening |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| C2CD3C2 domain containing 3 centriole elongation regulator | Vaak (30–79%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Vaak (30–79%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Vaak (30–79%) | In 1 aandoening |
| CHSY1chondroitin sulfate synthase 1 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 1 aandoening |
| COG2component of oligomeric golgi complex 2 | Vaak (30–79%) | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Vaak (30–79%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Vaak (30–79%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Vaak (30–79%) | In 1 aandoening |
| DHX9DExH-box helicase 9 | Vaak (30–79%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Vaak (30–79%) | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Vaak (30–79%) | In 1 aandoening |
| FBLN5fibulin 5 | Vaak (30–79%) | In 2 aandoeningen |
| FDXRferredoxin reductase | Vaak (30–79%) | In 1 aandoening |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| FIBPFGF1 intracellular binding protein | Vaak (30–79%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Vaak (30–79%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Vaak (30–79%) | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Vaak (30–79%) | In 1 aandoening |
| KIF15kinesin family member 15 | Vaak (30–79%) | In 1 aandoening |
| KLF13KLF transcription factor 13 | Vaak (30–79%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 2 aandoeningen |
| LMBRD1LMBR1 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| MID1midline 1 | Vaak (30–79%) | In 1 aandoening |
| MIR17HGmiR-17-92a-1 cluster host gene | Vaak (30–79%) | In 1 aandoening |
| MOGSmannosyl-oligosaccharide glucosidase | Vaak (30–79%) | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Vaak (30–79%) | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Vaak (30–79%) | In 2 aandoeningen |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 2 aandoeningen |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Vaak (30–79%) | In 1 aandoening |
| NF1neurofibromin 1 | Vaak (30–79%) | In 2 aandoeningen |
| NIPA1NIPA magnesium transporter 1 | Vaak (30–79%) | In 1 aandoening |
| NIPA2NIPA magnesium transporter 2 | Vaak (30–79%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Vaak (30–79%) | In 1 aandoening |
| OPHN1oligophrenin 1 | Vaak (30–79%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | Vaak (30–79%) | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| PDHBpyruvate dehydrogenase E1 subunit beta | Vaak (30–79%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Vaak (30–79%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Vaak (30–79%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Vaak (30–79%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Vaak (30–79%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 1 aandoening |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 2 aandoeningen |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| POLD3DNA polymerase delta 3, accessory subunit | Vaak (30–79%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Vaak (30–79%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Vaak (30–79%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 1 aandoening |
| RNF168ring finger protein 168 | Vaak (30–79%) | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Vaak (30–79%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 1 aandoening |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 4 aandoeningen |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Vaak (30–79%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| TALDO1transaldolase 1 | Vaak (30–79%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Vaak (30–79%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Vaak (30–79%) | In 2 aandoeningen |
| TUBG1tubulin gamma 1 | Vaak (30–79%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Vaak (30–79%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Soms (5–29%) | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| BIN1bridging integrator 1 | Soms (5–29%) | In 1 aandoening |
| CLTCL1clathrin heavy chain like 1 | Soms (5–29%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Soms (5–29%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LHX3LIM homeobox 3 | Soms (5–29%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Soms (5–29%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Soms (5–29%) | In 1 aandoening |
| MED16mediator complex subunit 16 | Soms (5–29%) | In 1 aandoening |
| MTM1myotubularin 1 | Soms (5–29%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Soms (5–29%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Soms (5–29%) | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Soms (5–29%) | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Soms (5–29%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Soms (5–29%) | In 1 aandoening |
| PSPHphosphoserine phosphatase | Soms (5–29%) | In 1 aandoening |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RNF13ring finger protein 13 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Soms (5–29%) | In 1 aandoening |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TMEM260transmembrane protein 260 | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Soms (5–29%) | In 1 aandoening |
| VMA22vacuolar ATPase assembly factor VMA22 | Soms (5–29%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Zelden (1–4%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Zelden (1–4%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Zelden (1–4%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Zelden (1–4%) | In 1 aandoening |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Zelden (1–4%) | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Zelden (1–4%) | In 1 aandoening |
| FLT4fms related receptor tyrosine kinase 4 | Zelden (1–4%) | In 1 aandoening |
| GJB2gap junction protein beta 2 | Zelden (1–4%) | In 1 aandoening |
| GJB6gap junction protein beta 6 | Zelden (1–4%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| JAK3Janus kinase 3 | Zelden (1–4%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Zelden (1–4%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Zelden (1–4%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Zelden (1–4%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Zelden (1–4%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| NUP107nucleoporin 107 | Zelden (1–4%) | In 2 aandoeningen |
| RFX5regulatory factor X5 | Zelden (1–4%) | In 1 aandoening |
| RFXANKregulatory factor X associated ankyrin containing protein | Zelden (1–4%) | In 1 aandoening |
| RFXAPregulatory factor X associated protein | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Zelden (1–4%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Zelden (1–4%) | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Niet vastgelegd | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Niet vastgelegd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Niet vastgelegd | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Niet vastgelegd | In 1 aandoening |
| ETFAelectron transfer flavoprotein subunit alpha | Niet vastgelegd | In 1 aandoening |
| ETFBelectron transfer flavoprotein subunit beta | Niet vastgelegd | In 1 aandoening |
| ETFDHelectron transfer flavoprotein dehydrogenase | Niet vastgelegd | In 1 aandoening |
| EXOSC9exosome component 9 | Niet vastgelegd | In 1 aandoening |
| HPSE2heparanase 2 (inactive) | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| KIF4Akinesin family member 4A | Niet vastgelegd | In 1 aandoening |
| KIF7kinesin family member 7 | Niet vastgelegd | In 1 aandoening |
| KMT2Elysine methyltransferase 2E (inactive) | Niet vastgelegd | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Niet vastgelegd | In 1 aandoening |
| PBX1PBX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Niet vastgelegd | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Niet vastgelegd | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Niet vastgelegd | In 1 aandoening |
| PHF21APHD finger protein 21A | Niet vastgelegd | In 1 aandoening |
| PITX2paired like homeodomain 2 | Niet vastgelegd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Niet vastgelegd | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| RPS17ribosomal protein S17 | Niet vastgelegd | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Niet vastgelegd | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Niet vastgelegd | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Niet vastgelegd | In 1 aandoening |
| TSEN34tRNA splicing endonuclease subunit 34 | Niet vastgelegd | In 1 aandoening |
| WDR81WD repeat domain 81 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
- Coarse facial features252 genen
- Triangular face189 genen
- Facial asymmetry153 genen
- Flat face115 genen
- Round face112 genen
- Elf-like facial appearance22 genen
- Small face20 genen
- Oval face19 genen
- Bird-like facial appearance18 genen
- Square face16 genen
- Moon face15 genen
- Large face11 genen
- Craniofacial disproportion6 genen
- Facial shape deformation6 genen
- Doll-like facial appearance4 genen
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.17-8666dff2.
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