Træk
Open mouth
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Resumé
- Også kaldet
- Gaped jawed appearance, Gaped mouthed appearance, Open mouth appearance, Slack jawed appearance
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test128 gener knyttet til Open mouth
Ændringer i disse gener forårsager sjældne tilstande, hvor Open mouth 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Altid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Altid | I 1 tilstand |
| DSTdystonin | Altid | I 2 tilstande |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| HOXB1homeobox B1 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 2 tilstande |
| NEXMIFneurite extension and migration factor | Altid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Altid | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Meget ofte (80–99 %) | I 2 tilstande |
| PAK3p21 (RAC1) activated kinase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Meget ofte (80–99 %) | I 1 tilstand |
| PLXND1plexin D1 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC9A6solute carrier family 9 member A6 | Meget ofte (80–99 %) | I 2 tilstande |
| VPS13Bvacuolar protein sorting 13 homolog B | Meget ofte (80–99 %) | I 2 tilstande |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 2 tilstande |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| CSNK2Bcasein kinase 2 beta | Ofte (30–79 %) | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstande |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstande |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 2 tilstande |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 2 tilstande |
Vis 88 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Ofte (30–79 %) | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ofte (30–79 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Nogle gange (5–29 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registreret | I 1 tilstand |
| CLTCclathrin heavy chain | Ikke registreret | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registreret | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registreret | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Ikke registreret | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ikke registreret | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ikke registreret | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ikke registreret | I 1 tilstand |
| PURApurine rich element binding protein A | Ikke registreret | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registreret | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registreret | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Ikke registreret | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TCF4transcription factor 4 | Ikke registreret | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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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