Trait
Rounded shoulders
Clinical name: Down-sloping shoulder
Low set, steeply sloping shoulders.
Summary
- Also called
- Rounded, sloping shoulders, Sloping shoulders, Depressed shoulder, Down-sloping shoulders, Shoulder depression
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test44 genes linked to Rounded shoulders
Changes in these genes cause rare conditions in which Rounded shoulders 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 |
|---|---|---|
| BRD4bromodomain containing 4 | Always | In 1 condition |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 2 conditions |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Always | In 1 condition |
| TBX5T-box transcription factor 5 | Always | In 2 conditions |
| CUL4Bcullin 4B | Very often (80–99%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| EFNB1ephrin B1 | Often (30–79%) | In 2 conditions |
| EIF4Heukaryotic translation initiation factor 4H | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 2 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Often (30–79%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Often (30–79%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Often (30–79%) | In 1 condition |
| IRX5iroquois homeobox 5 | Often (30–79%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| PAX1paired box 1 | Often (30–79%) | In 1 condition |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Sometimes (5–29%) | In 1 condition |
| CBFBcore-binding factor subunit beta | Sometimes (5–29%) | In 1 condition |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Sometimes (5–29%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 2 conditions |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Not recorded | In 1 condition |
Show 4 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| PTCH1patched 1 | Not recorded | In 1 condition |
| SPRTNSprT-like N-terminal domain | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | 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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