Trait
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Summary
- Also called
- 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
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test322 genes linked to Abnormal facial shape
Changes in these genes cause rare conditions in which Abnormal facial shape 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 |
|---|---|---|
| CACHD1cache domain containing 1 | Always | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Always | In 1 condition |
| DHRSXdehydrogenase/reductase X-linked | Always | In 1 condition |
| FAT4FAT atypical cadherin 4 | Always | In 3 conditions |
| FLNAfilamin A | Always | In 3 conditions |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GINS1GINS complex subunit 1 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 2 conditions |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 2 conditions |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 2 conditions |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| RPL10ribosomal protein L10 | Always | In 2 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 1 condition |
| SSR4signal sequence receptor subunit 4 | Always | In 1 condition |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Very often (80–99%) | In 1 condition |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 1 condition |
| AGAaspartylglucosaminidase | Very often (80–99%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Very often (80–99%) | In 1 condition |
| AUTS2activator of transcription and developmental regulator AUTS2 | Very often (80–99%) | In 1 condition |
| BCAP31B cell receptor associated protein 31 | Very often (80–99%) | In 2 conditions |
| BRF1BRF1 general transcription factor IIIB subunit | Very often (80–99%) | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Very often (80–99%) | In 1 condition |
| CDC42cell division cycle 42 | Very often (80–99%) | In 2 conditions |
| CDK8cyclin dependent kinase 8 | Very often (80–99%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Very often (80–99%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Very often (80–99%) | In 2 conditions |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Very often (80–99%) | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Very often (80–99%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Very often (80–99%) | In 1 condition |
| DPH1diphthamide biosynthesis 1 | Very often (80–99%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Very often (80–99%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Very often (80–99%) | In 2 conditions |
| EBF3EBF transcription factor 3 | Very often (80–99%) | In 1 condition |
Show 282 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Very often (80–99%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Very often (80–99%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Very often (80–99%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Very often (80–99%) | In 3 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Very often (80–99%) | In 3 conditions |
| ERMARDER membrane associated RNA degradation | Very often (80–99%) | In 1 condition |
| FBXO22F-box protein 22 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 2 conditions |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Very often (80–99%) | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Very often (80–99%) | In 1 condition |
| GHRgrowth hormone receptor | Very often (80–99%) | In 1 condition |
| GLB1galactosidase beta 1 | Very often (80–99%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Very often (80–99%) | In 1 condition |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 1 condition |
| HIRAhistone cell cycle regulator | Very often (80–99%) | In 1 condition |
| IGF1insulin like growth factor 1 | Very often (80–99%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Very often (80–99%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Very often (80–99%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Very often (80–99%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Very often (80–99%) | In 2 conditions |
| LAS1LLAS1 like ribosome biogenesis factor | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 3 conditions |
| MAN1B1mannosidase alpha class 1B member 1 | Very often (80–99%) | In 1 condition |
| MANBAmannosidase beta | Very often (80–99%) | In 2 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 1 condition |
| MEG3maternally expressed 3 | Very often (80–99%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Very often (80–99%) | In 1 condition |
| MMP14matrix metallopeptidase 14 | Very often (80–99%) | In 1 condition |
| MMP2matrix metallopeptidase 2 | Very often (80–99%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Very often (80–99%) | In 2 conditions |
| NDE1nudE neurodevelopment protein 1 | Very often (80–99%) | In 1 condition |
| NFIXnuclear factor I X | Very often (80–99%) | In 1 condition |
| NOTCH2notch receptor 2 | Very often (80–99%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Very often (80–99%) | In 1 condition |
| PEPDpeptidase D | Very often (80–99%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Very often (80–99%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Very often (80–99%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Very often (80–99%) | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Very often (80–99%) | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Very often (80–99%) | In 1 condition |
| RAI1retinoic acid induced 1 | Very often (80–99%) | In 1 condition |
| RDH11retinol dehydrogenase 11 | Very often (80–99%) | In 1 condition |
| RELNreelin | Very often (80–99%) | In 1 condition |
| RNF135ring finger protein 135 | Very often (80–99%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Very often (80–99%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Very often (80–99%) | In 1 condition |
| RTTNrotatin | Very often (80–99%) | In 1 condition |
| SATB2SATB homeobox 2 | Very often (80–99%) | In 2 conditions |
| SEC24CSEC24 homolog C, COPII component | Very often (80–99%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Very often (80–99%) | In 2 conditions |
| SIN3ASIN3 transcription regulator family member A | Very often (80–99%) | In 1 condition |
| SIN3BSIN3 transcription regulator family member B | Very often (80–99%) | In 1 condition |
| SKIC2SKI2 subunit of superkiller complex | Very often (80–99%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Very often (80–99%) | In 1 condition |
| SONSON DNA and RNA binding protein | Very often (80–99%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Very often (80–99%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Very often (80–99%) | In 1 condition |
| TBX1T-box transcription factor 1 | Very often (80–99%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Very often (80–99%) | In 1 condition |
| TELO2telomere maintenance 2 | Very often (80–99%) | In 1 condition |
| THOC6THO complex subunit 6 | Very often (80–99%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Very often (80–99%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Very often (80–99%) | In 1 condition |
| TTI2TELO2 interacting protein 2 | Very often (80–99%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Very often (80–99%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Very often (80–99%) | In 2 conditions |
| WACWW domain containing adaptor with coiled-coil | Very often (80–99%) | In 1 condition |
| YY1YY1 transcription factor | Very often (80–99%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Very often (80–99%) | In 2 conditions |
| ZNF699zinc finger protein 699 | Very often (80–99%) | In 1 condition |
| AEBP1AE binding protein 1 | Often (30–79%) | In 1 condition |
| AHCYadenosylhomocysteinase | Often (30–79%) | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 3 conditions |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Often (30–79%) | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Often (30–79%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Often (30–79%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Often (30–79%) | In 1 condition |
| ARID2AT-rich interaction domain 2 | Often (30–79%) | In 2 conditions |
| ATP10AATPase phospholipid transporting 10A (putative) | Often (30–79%) | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Often (30–79%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Often (30–79%) | In 1 condition |
| BCKDKbranched chain keto acid dehydrogenase kinase | Often (30–79%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Often (30–79%) | In 1 condition |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 1 condition |
| CA2carbonic anhydrase 2 | Often (30–79%) | In 1 condition |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Often (30–79%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 1 condition |
| COG2component of oligomeric golgi complex 2 | Often (30–79%) | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Often (30–79%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Often (30–79%) | In 1 condition |
| CTCFCCCTC-binding factor | Often (30–79%) | In 1 condition |
| DHX9DExH-box helicase 9 | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 2 conditions |
| FDXRferredoxin reductase | Often (30–79%) | In 1 condition |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Often (30–79%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Often (30–79%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Often (30–79%) | In 1 condition |
| HCCSholocytochrome c synthase | Often (30–79%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Often (30–79%) | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Often (30–79%) | In 1 condition |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Often (30–79%) | In 1 condition |
| KIF15kinesin family member 15 | Often (30–79%) | In 1 condition |
| KLF13KLF transcription factor 13 | Often (30–79%) | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Often (30–79%) | In 2 conditions |
| LMBRD1LMBR1 domain containing 1 | Often (30–79%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Often (30–79%) | In 1 condition |
| MID1midline 1 | Often (30–79%) | In 1 condition |
| MIR17HGmiR-17-92a-1 cluster host gene | Often (30–79%) | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Often (30–79%) | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Often (30–79%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Often (30–79%) | In 2 conditions |
| NDNnecdin, MAGE family member | Often (30–79%) | In 2 conditions |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Often (30–79%) | In 1 condition |
| NF1neurofibromin 1 | Often (30–79%) | In 2 conditions |
| NIPA1NIPA magnesium transporter 1 | Often (30–79%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Often (30–79%) | In 1 condition |
| NONOnon-POU domain containing octamer binding | Often (30–79%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Often (30–79%) | In 1 condition |
| OPHN1oligophrenin 1 | Often (30–79%) | In 1 condition |
| PAHphenylalanine hydroxylase | Often (30–79%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Often (30–79%) | In 2 conditions |
| PDHBpyruvate dehydrogenase E1 subunit beta | Often (30–79%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Often (30–79%) | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Often (30–79%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Often (30–79%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Often (30–79%) | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Often (30–79%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Often (30–79%) | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Often (30–79%) | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 2 conditions |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| POLD3DNA polymerase delta 3, accessory subunit | Often (30–79%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Often (30–79%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Often (30–79%) | In 1 condition |
| PTENphosphatase and tensin homolog | Often (30–79%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Often (30–79%) | In 1 condition |
| RNF168ring finger protein 168 | Often (30–79%) | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Often (30–79%) | In 1 condition |
| RPS6KC1ribosomal protein S6 kinase C1 | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Often (30–79%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Often (30–79%) | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Often (30–79%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Often (30–79%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Often (30–79%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 4 conditions |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Often (30–79%) | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Often (30–79%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Often (30–79%) | In 2 conditions |
| TALDO1transaldolase 1 | Often (30–79%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Often (30–79%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Often (30–79%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Often (30–79%) | In 2 conditions |
| TUBG1tubulin gamma 1 | Often (30–79%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Often (30–79%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Sometimes (5–29%) | In 1 condition |
| ACADSacyl-CoA dehydrogenase short chain | Sometimes (5–29%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sometimes (5–29%) | In 1 condition |
| BIN1bridging integrator 1 | Sometimes (5–29%) | In 1 condition |
| CLTCL1clathrin heavy chain like 1 | Sometimes (5–29%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Sometimes (5–29%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Sometimes (5–29%) | In 1 condition |
| FGF10fibroblast growth factor 10 | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 1 condition |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| LHX3LIM homeobox 3 | Sometimes (5–29%) | In 1 condition |
| LHX4LIM homeobox 4 | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MTM1myotubularin 1 | Sometimes (5–29%) | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Sometimes (5–29%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Sometimes (5–29%) | In 1 condition |
| PGM3phosphoglucomutase 3 | Sometimes (5–29%) | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Sometimes (5–29%) | In 1 condition |
| PLXND1plexin D1 | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PSPHphosphoserine phosphatase | Sometimes (5–29%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RNF13ring finger protein 13 | Sometimes (5–29%) | In 1 condition |
| RYR1ryanodine receptor 1 | Sometimes (5–29%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Sometimes (5–29%) | In 1 condition |
| SMSspermine synthase | Sometimes (5–29%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Sometimes (5–29%) | In 1 condition |
| STAG1STAG1 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 1 condition |
| TMEM260transmembrane protein 260 | Sometimes (5–29%) | In 1 condition |
| TTNtitin | Sometimes (5–29%) | In 1 condition |
| TUBGCP4tubulin gamma complex component 4 | Sometimes (5–29%) | In 1 condition |
| VMA22vacuolar ATPase assembly factor VMA22 | Sometimes (5–29%) | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rarely (1–4%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Rarely (1–4%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Rarely (1–4%) | In 1 condition |
| CIITAclass II major histocompatibility complex transactivator | Rarely (1–4%) | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Rarely (1–4%) | In 1 condition |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Rarely (1–4%) | In 1 condition |
| FLT4fms related receptor tyrosine kinase 4 | Rarely (1–4%) | In 1 condition |
| GJB2gap junction protein beta 2 | Rarely (1–4%) | In 1 condition |
| GJB6gap junction protein beta 6 | Rarely (1–4%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| JAK3Janus kinase 3 | Rarely (1–4%) | In 1 condition |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Rarely (1–4%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Rarely (1–4%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Rarely (1–4%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Rarely (1–4%) | In 1 condition |
| NKX2-1NK2 homeobox 1 | Rarely (1–4%) | In 1 condition |
| NUP107nucleoporin 107 | Rarely (1–4%) | In 2 conditions |
| RFX5regulatory factor X5 | Rarely (1–4%) | In 1 condition |
| RFXANKregulatory factor X associated ankyrin containing protein | Rarely (1–4%) | In 1 condition |
| RFXAPregulatory factor X associated protein | Rarely (1–4%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rarely (1–4%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Rarely (1–4%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Rarely (1–4%) | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNDcholinergic receptor nicotinic delta subunit | Not recorded | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Not recorded | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Not recorded | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Not recorded | In 1 condition |
| ETFAelectron transfer flavoprotein subunit alpha | Not recorded | In 1 condition |
| ETFBelectron transfer flavoprotein subunit beta | Not recorded | In 1 condition |
| ETFDHelectron transfer flavoprotein dehydrogenase | Not recorded | In 1 condition |
| EXOSC9exosome component 9 | Not recorded | In 1 condition |
| HPSE2heparanase 2 (inactive) | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| KIF4Akinesin family member 4A | Not recorded | In 1 condition |
| KIF7kinesin family member 7 | Not recorded | In 1 condition |
| KMT2Elysine methyltransferase 2E (inactive) | Not recorded | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| PDE6Dphosphodiesterase 6D | Not recorded | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Not recorded | In 1 condition |
| PHF21APHD finger protein 21A | Not recorded | In 1 condition |
| PITX2paired like homeodomain 2 | Not recorded | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Not recorded | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Not recorded | In 1 condition |
| RPS17ribosomal protein S17 | Not recorded | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Not recorded | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Not recorded | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Not recorded | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Not recorded | In 1 condition |
| WDR81WD repeat domain 81 | 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.
Narrower traits
- Coarse facial features252 genes
- Triangular face189 genes
- Facial asymmetry153 genes
- Flat face115 genes
- Round face112 genes
- Elf-like facial appearance22 genes
- Small face20 genes
- Oval face19 genes
- Bird-like facial appearance18 genes
- Square face16 genes
- Moon face15 genes
- Large face11 genes
- Craniofacial disproportion6 genes
- Facial shape deformation6 genes
- Doll-like facial appearance4 genes
Broader traits
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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