Trait
Open mouth
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Summary
- Also called
- Gaped jawed appearance, Gaped mouthed appearance, Open mouth appearance, Slack jawed appearance
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test128 genes linked to Open mouth
Changes in these genes cause rare conditions in which Open mouth is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Always | In 1 condition |
| ASH1LASH1 like histone lysine methyltransferase | Always | In 1 condition |
| BCAS3BCAS3 microtubule associated cell migration factor | Always | In 1 condition |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Always | In 1 condition |
| DENND5ADENN domain containing 5A | Always | In 1 condition |
| DSTdystonin | Always | In 2 conditions |
| GCSHglycine cleavage system protein H | Always | In 1 condition |
| HOXB1homeobox B1 | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Always | In 2 conditions |
| NEXMIFneurite extension and migration factor | Always | In 1 condition |
| NONOnon-POU domain containing octamer binding | Always | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Always | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Very often (80–99%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Very often (80–99%) | In 2 conditions |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Very often (80–99%) | In 2 conditions |
| PAK3p21 (RAC1) activated kinase 3 | Very often (80–99%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Very often (80–99%) | In 1 condition |
| PLXND1plexin D1 | Very often (80–99%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Very often (80–99%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Very often (80–99%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Very often (80–99%) | In 2 conditions |
| SLC9A6solute carrier family 9 member A6 | Very often (80–99%) | In 2 conditions |
| VPS13Bvacuolar protein sorting 13 homolog B | Very often (80–99%) | In 2 conditions |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 2 conditions |
| AGO2argonaute RISC catalytic component 2 | Often (30–79%) | In 1 condition |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Often (30–79%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 1 condition |
| CSNK2Bcasein kinase 2 beta | Often (30–79%) | In 1 condition |
| ECEL1endothelin converting enzyme like 1 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| FOXP1forkhead box P1 | Often (30–79%) | In 2 conditions |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 3 conditions |
| KCNK9potassium two pore domain channel subfamily K member 9 | Often (30–79%) | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Often (30–79%) | In 2 conditions |
| MED12mediator complex subunit 12 | Often (30–79%) | In 2 conditions |
Show 88 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MED13Lmediator complex subunit 13L | Often (30–79%) | In 2 conditions |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| NKAPNFKB activating protein | Often (30–79%) | In 1 condition |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Often (30–79%) | In 1 condition |
| PDZD8PDZ domain containing 8 | Often (30–79%) | In 1 condition |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Often (30–79%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 2 conditions |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Often (30–79%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Often (30–79%) | In 1 condition |
| RPS23ribosomal protein S23 | Often (30–79%) | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Often (30–79%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Often (30–79%) | In 2 conditions |
| TET3tet methylcytosine dioxygenase 3 | Often (30–79%) | In 1 condition |
| TFE3transcription factor binding to IGHM enhancer 3 | Often (30–79%) | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Often (30–79%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Often (30–79%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 2 conditions |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Sometimes (5–29%) | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sometimes (5–29%) | In 1 condition |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| LAMA2laminin subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Sometimes (5–29%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 2 conditions |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Sometimes (5–29%) | In 2 conditions |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Sometimes (5–29%) | In 2 conditions |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Not recorded | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Not recorded | In 1 condition |
| CCDC174coiled-coil domain containing 174 | Not recorded | In 1 condition |
| CLTCclathrin heavy chain | Not recorded | In 1 condition |
| DGCR2DiGeorge syndrome critical region gene 2 | Not recorded | In 1 condition |
| DGCR6DiGeorge syndrome critical region gene 6 | Not recorded | In 1 condition |
| DGCR8DGCR8 microprocessor complex subunit | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| ESS2ess-2 spliceosome associated protein | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Not recorded | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Not recorded | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| MAGEL2MAGE family member L2 | Not recorded | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Not recorded | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Not recorded | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Not recorded | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Not recorded | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Not recorded | In 1 condition |
| PURApurine rich element binding protein A | Not recorded | In 1 condition |
| PUS7pseudouridine synthase 7 | Not recorded | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Not recorded | In 1 condition |
| SOX5SRY-box transcription factor 5 | Not recorded | In 1 condition |
| TBX1T-box transcription factor 1 | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| TCF4transcription factor 4 | Not recorded | In 1 condition |
| TMEM237transmembrane protein 237 | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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