Trait
Round face
The facial appearance is more circular than usual as viewed from the front.
Summary
- Also called
- Circular face, Round facial appearance, Round facial shape, Round facies
- 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 Test112 genes linked to Round face
Changes in these genes cause rare conditions in which Round face 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Always | In 1 condition |
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 2 conditions |
| CANT1calcium activated nucleotidase 1 | Always | In 1 condition |
| CPEcarboxypeptidase E | Always | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Always | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Always | In 2 conditions |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Always | In 2 conditions |
| GNASGNAS complex locus | Always | In 8 conditions |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| IARS1isoleucyl-tRNA synthetase 1 | Always | In 2 conditions |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Always | In 3 conditions |
| MRPL12mitochondrial ribosomal protein L12 | Always | In 1 condition |
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| RBL2RB transcriptional corepressor like 2 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Always | In 2 conditions |
| TECPR2tectonin beta-propeller repeat containing 2 | Always | In 2 conditions |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Always | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Very often (80–99%) | In 2 conditions |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 3 conditions |
| CTNND2catenin delta 2 | Very often (80–99%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Very often (80–99%) | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Very often (80–99%) | In 1 condition |
| FBN1fibrillin 1 | Very often (80–99%) | In 3 conditions |
| HDAC4histone deacetylase 4 | Very often (80–99%) | In 2 conditions |
| LMNAlamin A/C | Very often (80–99%) | In 3 conditions |
| LMX1BLIM homeobox transcription factor 1 beta | Very often (80–99%) | In 1 condition |
| SEMA5Asemaphorin 5A | Very often (80–99%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Very often (80–99%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Very often (80–99%) | In 1 condition |
| ZBTB18zinc finger and BTB domain containing 18 | Very often (80–99%) | In 2 conditions |
Show 72 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| CENPEcentromere protein E | Often (30–79%) | In 1 condition |
| EXOC8exocyst complex component 8 | Often (30–79%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Often (30–79%) | In 2 conditions |
| KAT5lysine acetyltransferase 5 | Often (30–79%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Often (30–79%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 2 conditions |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Often (30–79%) | In 1 condition |
| RECQLRecQ like helicase | Often (30–79%) | In 1 condition |
| SH3BP2SH3 domain binding protein 2 | Often (30–79%) | In 1 condition |
| SLC37A4solute carrier family 37 member 4 | Often (30–79%) | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 1 condition |
| STX16syntaxin 16 | Often (30–79%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Often (30–79%) | In 2 conditions |
| ACTG2actin gamma 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 2 conditions |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Sometimes (5–29%) | In 1 condition |
| FBXO31F-box protein 31 | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 2 conditions |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Sometimes (5–29%) | In 1 condition |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KDM4Blysine demethylase 4B | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 2 conditions |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| P3H1prolyl 3-hydroxylase 1 | Sometimes (5–29%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Sometimes (5–29%) | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sometimes (5–29%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 1 condition |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Sometimes (5–29%) | In 1 condition |
| SEPTIN9septin 9 | Sometimes (5–29%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Sometimes (5–29%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| ARMC5armadillo repeat containing 5 | Not recorded | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Not recorded | In 1 condition |
| CRTAPcartilage associated protein | Not recorded | In 1 condition |
| ECEL1endothelin converting enzyme like 1 | Not recorded | In 1 condition |
| EEDembryonic ectoderm development | Not recorded | In 1 condition |
| GNAI3G protein subunit alpha i3 | Not recorded | In 1 condition |
| HOXD13homeobox D13 | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| ITGA3integrin subunit alpha 3 | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PDE11Aphosphodiesterase 11A | Not recorded | In 1 condition |
| PDE4Dphosphodiesterase 4D | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PLCB4phospholipase C beta 4 | Not recorded | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Not recorded | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | Not recorded | In 1 condition |
| TMEM67transmembrane protein 67 | Not recorded | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | 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.
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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From $449Free shipping · Results in 6–8 weeks