Kenmerk
Narrow mouth
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Samenvatting
- Ook bekend als
- Small mouth, Microstomia, Small oral aperture
- Lichaamssysteem
- Abnormality of head or neck
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Narrow mouth 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 |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Altijd | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Altijd | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CEP57centrosomal protein 57 | Altijd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Altijd | In 2 aandoeningen |
| COG7component of oligomeric golgi complex 7 | Altijd | In 2 aandoeningen |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 1 aandoening |
| DCPSdecapping enzyme, scavenger | Altijd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 2 aandoeningen |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Altijd | In 2 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 2 aandoeningen |
| FLNAfilamin A | Altijd | In 3 aandoeningen |
| GLB1galactosidase beta 1 | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MCM5minichromosome maintenance complex component 5 | Altijd | In 1 aandoening |
| MDM2MDM2 proto-oncogene | Altijd | In 1 aandoening |
| MED12mediator complex subunit 12 | Altijd | In 1 aandoening |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MYH3myosin heavy chain 3 | Altijd | In 4 aandoeningen |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altijd | In 1 aandoening |
| NOTCH2notch receptor 2 | Altijd | In 2 aandoeningen |
| ORC4origin recognition complex subunit 4 | Altijd | In 2 aandoeningen |
| PLCB4phospholipase C beta 4 | Altijd | In 3 aandoeningen |
| PRRX1paired related homeobox 1 | Altijd | In 2 aandoeningen |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| SCARF2scavenger receptor class F member 2 | Altijd | In 2 aandoeningen |
| SCYL2SCY1 like pseudokinase 2 | Altijd | In 1 aandoening |
| SP7Sp7 transcription factor | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TMLHEtrimethyllysine hydroxylase, epsilon | Altijd | In 1 aandoening |
| TOP2BDNA topoisomerase II beta | Altijd | In 1 aandoening |
| TP63tumor protein p63 | Altijd | In 1 aandoening |
| TUBBtubulin beta class I | Altijd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Altijd | In 5 aandoeningen |
| B4GALT7beta-1,4-galactosyltransferase 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| BCL11ABCL11 transcription factor A | Heel vaak (80–99%) | In 1 aandoening |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 205 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CDC6cell division cycle 6 | Heel vaak (80–99%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DSEdermatan sulfate epimerase | Heel vaak (80–99%) | In 2 aandoeningen |
| EIF4A3eukaryotic translation initiation factor 4A3 | Heel vaak (80–99%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Heel vaak (80–99%) | In 1 aandoening |
| HDAC9histone deacetylase 9 | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Heel vaak (80–99%) | In 2 aandoeningen |
| LMNAlamin A/C | Heel vaak (80–99%) | In 2 aandoeningen |
| MADDMAP kinase activating death domain | Heel vaak (80–99%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 3 aandoeningen |
| ORC1origin recognition complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ORC6origin recognition complex subunit 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| OTX2orthodenticle homeobox 2 | Heel vaak (80–99%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| PAX3paired box 3 | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Heel vaak (80–99%) | In 2 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PTCH1patched 1 | Heel vaak (80–99%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Heel vaak (80–99%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| XPO1exportin 1 | Heel vaak (80–99%) | In 1 aandoening |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Heel vaak (80–99%) | In 1 aandoening |
| AKT3AKT serine/threonine kinase 3 | Vaak (30–79%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Vaak (30–79%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Vaak (30–79%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CCND2cyclin D2 | Vaak (30–79%) | In 1 aandoening |
| CDK13cyclin dependent kinase 13 | Vaak (30–79%) | In 1 aandoening |
| CENPTcentromere protein T | Vaak (30–79%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 2 aandoeningen |
| COL11A1collagen type XI alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL11A2collagen type XI alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Vaak (30–79%) | In 1 aandoening |
| ECEL1endothelin converting enzyme like 1 | Vaak (30–79%) | In 1 aandoening |
| EDN1endothelin 1 | Vaak (30–79%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Vaak (30–79%) | In 3 aandoeningen |
| FBN1fibrillin 1 | Vaak (30–79%) | In 2 aandoeningen |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Vaak (30–79%) | In 1 aandoening |
| GNAI3G protein subunit alpha i3 | Vaak (30–79%) | In 2 aandoeningen |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Vaak (30–79%) | In 1 aandoening |
| LEMD2LEM domain nuclear envelope protein 2 | Vaak (30–79%) | In 1 aandoening |
| LGI3leucine rich repeat LGI family member 3 | Vaak (30–79%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Vaak (30–79%) | In 1 aandoening |
| LTBP3latent transforming growth factor beta binding protein 3 | Vaak (30–79%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Vaak (30–79%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| MMP23Bmatrix metallopeptidase 23B | Vaak (30–79%) | In 1 aandoening |
| MTX2metaxin 2 | Vaak (30–79%) | In 1 aandoening |
| MYL11myosin light chain 11 | Vaak (30–79%) | In 1 aandoening |
| NEBnebulin | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 3 aandoeningen |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Vaak (30–79%) | In 1 aandoening |
| PDPNpodoplanin | Vaak (30–79%) | In 1 aandoening |
| PHACTR1phosphatase and actin regulator 1 | Vaak (30–79%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Vaak (30–79%) | In 1 aandoening |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Vaak (30–79%) | In 1 aandoening |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Vaak (30–79%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Vaak (30–79%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Vaak (30–79%) | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Vaak (30–79%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Vaak (30–79%) | In 2 aandoeningen |
| REREarginine-glutamic acid dipeptide repeats | Vaak (30–79%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| RNH1ribonuclease/angiogenin inhibitor 1 | Vaak (30–79%) | In 1 aandoening |
| RSPO2R-spondin 2 | Vaak (30–79%) | In 1 aandoening |
| SCNM1sodium channel modifier 1 | Vaak (30–79%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SKISKI proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Vaak (30–79%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| TRIM33tripartite motif containing 33 | Vaak (30–79%) | In 1 aandoening |
| TRIP4thyroid hormone receptor interactor 4 | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Vaak (30–79%) | In 1 aandoening |
| WNT3Wnt family member 3 | Vaak (30–79%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Soms (5–29%) | In 1 aandoening |
| BCRBCR activator of RhoGEF and GTPase | Soms (5–29%) | In 1 aandoening |
| BIN1bridging integrator 1 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Soms (5–29%) | In 2 aandoeningen |
| CCBE1collagen and calcium binding EGF domains 1 | Soms (5–29%) | In 2 aandoeningen |
| CHSY1chondroitin sulfate synthase 1 | Soms (5–29%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Soms (5–29%) | In 3 aandoeningen |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CRKLCRK like proto-oncogene, adaptor protein | Soms (5–29%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Soms (5–29%) | In 2 aandoeningen |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| DCHS1dachsous cadherin-related 1 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 2 aandoeningen |
| EXTL3exostosin like glycosyltransferase 3 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Soms (5–29%) | In 1 aandoening |
| GSCgoosecoid homeobox | Soms (5–29%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Soms (5–29%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 2 aandoeningen |
| MMP1matrix metallopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| MYBPC1myosin binding protein C1 | Soms (5–29%) | In 2 aandoeningen |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 1 aandoening |
| POLR1BRNA polymerase I subunit B | Soms (5–29%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Soms (5–29%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Soms (5–29%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 2 aandoeningen |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Soms (5–29%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Soms (5–29%) | In 2 aandoeningen |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 2 aandoeningen |
| RTTNrotatin | Soms (5–29%) | In 2 aandoeningen |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 3 aandoeningen |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SEPTIN9septin 9 | Soms (5–29%) | In 2 aandoeningen |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 2 aandoeningen |
| SLC26A2solute carrier family 26 member 2 | Soms (5–29%) | In 1 aandoening |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| SOX6SRY-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| TAF6TATA-box binding protein associated factor 6 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Soms (5–29%) | In 2 aandoeningen |
| TGDSTDP-glucose 4,6-dehydratase | Soms (5–29%) | In 1 aandoening |
| TNNI2troponin I2, fast skeletal type | Soms (5–29%) | In 2 aandoeningen |
| TNNT3troponin T3, fast skeletal type | Soms (5–29%) | In 2 aandoeningen |
| TPM2tropomyosin 2 | Soms (5–29%) | In 2 aandoeningen |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 1 aandoening |
| TXNL4Athioredoxin like 4A | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Zelden (1–4%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Zelden (1–4%) | In 1 aandoening |
| KIF7kinesin family member 7 | Zelden (1–4%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Zelden (1–4%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Niet vastgelegd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Niet vastgelegd | In 1 aandoening |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Niet vastgelegd | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Niet vastgelegd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| ITGA3integrin subunit alpha 3 | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 1 aandoening |
| NFIAnuclear factor I A | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Niet vastgelegd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Niet vastgelegd | In 1 aandoening |
| SONSON DNA and RNA binding protein | Niet vastgelegd | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Niet vastgelegd | In 1 aandoening |
| TLK2tousled like kinase 2 | Niet vastgelegd | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
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 2026.10.16-c6eea6bf.
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