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Trait
Expressionless face
Clinical name: Mask-like facies
A lack of facial expression often with staring eyes and a slightly open mouth.
Summary
- Also called
- Lack of facial expression, Mask-like facial appearance, Amimia, Masklike facies
- Body system
- Abnormality of head or neck
Expressionless faceHP:0000298
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Read the genes linked to Expressionless face, and the rest of your genome, with one test.
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Get my Genome Test63 genes linked to Expressionless face
Changes in these genes cause rare conditions in which Expressionless 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Always | In 2 conditions |
| FKRPfukutin related protein | Always | In 1 condition |
| FKTNfukutin | Always | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Always | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Always | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Always | In 1 condition |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Very often (80–99%) | In 1 condition |
| DUX4double homeobox 4 | Very often (80–99%) | In 1 condition |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Very often (80–99%) | In 1 condition |
| FRG1FSHD region gene 1 | Very often (80–99%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Very often (80–99%) | In 1 condition |
| PAX6paired box 6 | Very often (80–99%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Very often (80–99%) | In 1 condition |
| PLXND1plexin D1 | Very often (80–99%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Very often (80–99%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Very often (80–99%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Very often (80–99%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Often (30–79%) | In 1 condition |
| CMPK2cytidine/uridine monophosphate kinase 2 | Often (30–79%) | In 1 condition |
| JAM2junctional adhesion molecule 2 | Often (30–79%) | In 2 conditions |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Often (30–79%) | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Often (30–79%) | In 1 condition |
| MYORGmyogenesis regulating glycosidase | Often (30–79%) | In 2 conditions |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Often (30–79%) | In 2 conditions |
| NEUROG1neurogenin 1 | Often (30–79%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Often (30–79%) | In 2 conditions |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Often (30–79%) | In 1 condition |
| RRP12ribosomal RNA processing 12 homolog | Often (30–79%) | In 1 condition |
| SLC20A2solute carrier family 20 member 2 | Often (30–79%) | In 2 conditions |
| TK2thymidine kinase 2 | Often (30–79%) | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Often (30–79%) | In 1 condition |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Often (30–79%) | In 2 conditions |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Sometimes (5–29%) | In 1 condition |
Show 23 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sometimes (5–29%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Sometimes (5–29%) | In 1 condition |
| PABPN1poly(A) binding protein nuclear 1 | Sometimes (5–29%) | In 2 conditions |
| PANK2pantothenate kinase 2 | Sometimes (5–29%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Sometimes (5–29%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Not recorded | In 1 condition |
| ATXN2ataxin 2 | Not recorded | In 1 condition |
| ATXN3ataxin 3 | Not recorded | In 1 condition |
| ATXN8OSATXN8 opposite strand lncRNA | Not recorded | In 1 condition |
| DCTN1dynactin subunit 1 | Not recorded | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| MAPTmicrotubule associated protein tau | Not recorded | In 1 condition |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Not recorded | In 1 condition |
| MYH3myosin heavy chain 3 | Not recorded | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Not recorded | In 1 condition |
| SNCAIPsynuclein alpha interacting protein | Not recorded | In 1 condition |
| TBPTATA-box binding protein | Not recorded | In 1 condition |
| THtyrosine hydroxylase | Not recorded | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | 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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