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Trait
Myopathic facies
A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
Summary
- Also called
- Myopathic face, Myopathic facial appearance
- Body system
- Abnormality of head or neck
Myopathic faciesHP:0002058
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Read the genes linked to Myopathic facies, and the rest of your genome, with one test.
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Get my Genome Test65 genes linked to Myopathic facies
Changes in these genes cause rare conditions in which Myopathic facies 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 |
|---|---|---|
| KCNH1potassium voltage-gated channel subfamily H member 1 | Always | In 2 conditions |
| KCNK3potassium two pore domain channel subfamily K member 3 | Always | In 1 condition |
| LRP12LDL receptor related protein 12 | Always | In 2 conditions |
| MYH2myosin heavy chain 2 | Always | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Always | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Always | In 1 condition |
| RYR1ryanodine receptor 1 | Always | In 5 conditions |
| SPTBN4spectrin beta, non-erythrocytic 4 | Always | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Always | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Always | In 2 conditions |
| STAC3SH3 and cysteine rich domain 3 | Very often (80–99%) | In 2 conditions |
| ABCD3ATP binding cassette subfamily D member 3 | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 3 conditions |
| BCL11BBCL11 transcription factor B | Often (30–79%) | In 2 conditions |
| CERT1ceramide transporter 1 | Often (30–79%) | In 1 condition |
| DMXL2Dmx like 2 | Often (30–79%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 2 conditions |
| DSTdystonin | Often (30–79%) | In 1 condition |
| GIPC1GIPC PDZ domain containing family member 1 | Often (30–79%) | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Often (30–79%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Often (30–79%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Often (30–79%) | In 1 condition |
| KLHL41kelch like family member 41 | Often (30–79%) | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Often (30–79%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Often (30–79%) | In 1 condition |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| MYL1myosin light chain 1 | Often (30–79%) | In 1 condition |
| MYL2myosin light chain 2 | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 2 conditions |
| NOTCH2NLCnotch 2 N-terminal like C | Often (30–79%) | In 1 condition |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Often (30–79%) | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 1 condition |
| PURApurine rich element binding protein A | Often (30–79%) | In 2 conditions |
| RILPL1Rab interacting lysosomal protein like 1 | Often (30–79%) | In 1 condition |
| SELENONselenoprotein N | Often (30–79%) | In 1 condition |
| SGCBsarcoglycan beta | Often (30–79%) | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Often (30–79%) | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 2 conditions |
Show 25 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TPM3tropomyosin 3 | Often (30–79%) | In 2 conditions |
| VPS41VPS41 subunit of HOPS complex | Often (30–79%) | In 1 condition |
| COL25A1collagen type XXV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| EBF3EBF transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Sometimes (5–29%) | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sometimes (5–29%) | In 2 conditions |
| LAMA2laminin subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| SCYL2SCY1 like pseudokinase 2 | Sometimes (5–29%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Sometimes (5–29%) | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 1 condition |
| CCDC174coiled-coil domain containing 174 | Not recorded | In 1 condition |
| GLE1GLE1 RNA export mediator | Not recorded | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Not recorded | In 1 condition |
| HOXB1homeobox B1 | Not recorded | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 1 condition |
| SLC52A3solute carrier family 52 member 3 | Not recorded | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| TNPO2transportin 2 | Not recorded | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | 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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