Trait
Flat face
Absence of concavity or convexity of the face when viewed in profile.
Summary
- Also called
- Flat facial shape, Flat facial profile, Flat 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 Test115 genes linked to Flat face
Changes in these genes cause rare conditions in which Flat 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 |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Always | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Always | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Always | In 2 conditions |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Always | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Always | In 2 conditions |
| CDH1cadherin 1 | Always | In 1 condition |
| COL9A1collagen type IX alpha 1 chain | Always | In 2 conditions |
| DCPSdecapping enzyme, scavenger | Always | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 1 condition |
| EP300EP300 lysine acetyltransferase | Always | In 1 condition |
| GLB1galactosidase beta 1 | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 2 conditions |
| LONP1lon peptidase 1, mitochondrial | Always | In 2 conditions |
| MN1MN1 proto-oncogene, transcriptional regulator | Always | In 1 condition |
| MYH3myosin heavy chain 3 | Always | In 1 condition |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Always | In 1 condition |
| PAK3p21 (RAC1) activated kinase 3 | Always | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Always | In 3 conditions |
| PEX26peroxisomal biogenesis factor 26 | Always | In 2 conditions |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Always | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Always | In 1 condition |
| RAB5IFRAB5 interacting factor | Always | In 1 condition |
| RAD21RAD21 cohesin complex component | Always | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 2 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| XYLT1xylosyltransferase 1 | Always | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Very often (80–99%) | In 1 condition |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Very often (80–99%) | In 2 conditions |
| ATRXATRX chromatin remodeler | Very often (80–99%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Very often (80–99%) | In 1 condition |
| CDH11cadherin 11 | Very often (80–99%) | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL9A2collagen type IX alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Very often (80–99%) | In 1 condition |
| FAT4FAT atypical cadherin 4 | Very often (80–99%) | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 3 conditions |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 2 conditions |
Show 75 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FLNBfilamin B | Very often (80–99%) | In 2 conditions |
| GUSBglucuronidase beta | Very often (80–99%) | In 1 condition |
| LOXL3lysyl oxidase like 3 | Very often (80–99%) | In 1 condition |
| MAFMAF bZIP transcription factor | Very often (80–99%) | In 2 conditions |
| PAX3paired box 3 | Very often (80–99%) | In 2 conditions |
| PDE4Dphosphodiesterase 4D | Very often (80–99%) | In 2 conditions |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 2 conditions |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 2 conditions |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 2 conditions |
| TBX22T-box transcription factor 22 | Very often (80–99%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Often (30–79%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Often (30–79%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 6 conditions |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 4 conditions |
| KAT5lysine acetyltransferase 5 | Often (30–79%) | In 1 condition |
| KIF22kinesin family member 22 | Often (30–79%) | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Often (30–79%) | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Often (30–79%) | In 1 condition |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| TUBBtubulin beta class I | Often (30–79%) | In 1 condition |
| WNT5AWnt family member 5A | Often (30–79%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Often (30–79%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Sometimes (5–29%) | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| CDCA7cell division cycle associated 7 | Sometimes (5–29%) | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DEAF1DEAF1 transcription factor | Sometimes (5–29%) | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Sometimes (5–29%) | In 2 conditions |
| FBXO31F-box protein 31 | Sometimes (5–29%) | In 1 condition |
| FN1fibronectin 1 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| HELLShelicase, lymphoid specific | Sometimes (5–29%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Sometimes (5–29%) | In 2 conditions |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
| MATN3matrilin 3 | Sometimes (5–29%) | In 2 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| SLC39A8solute carrier family 39 member 8 | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Sometimes (5–29%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Sometimes (5–29%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CTNND1catenin delta 1 | Not recorded | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Not recorded | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| GPC6glypican 6 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| ROR2ROR family WNT receptor 2 | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Not recorded | In 2 conditions |
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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