Trait

Limited elbow extension

Limited ability to straighten the arm at the elbow joint.

Also called: Decreased elbow extension, Elbow limited extension, Limitation of elbow extension, Limited extension at elbows, Limited forearm extension, Restricted elbow extension, Reduced elbow extension
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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52 genes linked to Limited elbow extension

Changes in these genes cause rare conditions in which Limited elbow extension 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
ALPK3alpha kinase 3	Always	In 1 condition
CLCF1cardiotrophin like cytokine factor 1	Always	In 1 condition
COL2A1collagen type II alpha 1 chain	Always	In 2 conditions
ERI1exoribonuclease 1	Always	In 1 condition
ITCHitchy E3 ubiquitin protein ligase	Always	In 1 condition
LBRlamin B receptor	Always	In 1 condition
PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma	Always	In 1 condition
RAB33BRAB33B, member RAS oncogene family	Always	In 1 condition
RSPRY1ring finger and SPRY domain containing 1	Always	In 2 conditions
SF3B4splicing factor 3b subunit 4	Always	In 1 condition
TAF4TATA-box binding protein associated factor 4	Always	In 1 condition
FBN2fibrillin 2	Very often (80–99%)	In 1 condition
HDAC8histone deacetylase 8	Very often (80–99%)	In 1 condition
RMRPRNA component of mitochondrial RNA processing endoribonuclease	Very often (80–99%)	In 3 conditions
COL27A1collagen type XXVII alpha 1 chain	Often (30–79%)	In 1 condition
COMPcartilage oligomeric matrix protein	Often (30–79%)	In 2 conditions
CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1	Often (30–79%)	In 1 condition
EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit	Often (30–79%)	In 1 condition
FGFR3fibroblast growth factor receptor 3	Often (30–79%)	In 3 conditions
GTPBP1GTP binding protein 1	Often (30–79%)	In 1 condition
GTPBP2GTP binding protein 2	Often (30–79%)	In 1 condition
LMX1BLIM homeobox transcription factor 1 beta	Often (30–79%)	In 2 conditions
MATN3matrilin 3	Often (30–79%)	In 2 conditions
NIPBLNIPBL cohesin loading factor	Often (30–79%)	In 1 condition
PORcytochrome p450 oxidoreductase	Often (30–79%)	In 1 condition
RNU4ATACRNA, U4atac small nuclear	Often (30–79%)	In 1 condition
TBX5T-box transcription factor 5	Often (30–79%)	In 1 condition
ABCC9ATP binding cassette subfamily C member 9	Sometimes (5–29%)	In 1 condition
BPNT23'(2'), 5'-bisphosphate nucleotidase 2	Sometimes (5–29%)	In 1 condition
COL9A3collagen type IX alpha 3 chain	Sometimes (5–29%)	In 1 condition
DYMdymeclin	Sometimes (5–29%)	In 1 condition
FBN1fibrillin 1	Sometimes (5–29%)	In 1 condition
GNB1G protein subunit beta 1	Sometimes (5–29%)	In 1 condition
MAPK1mitogen-activated protein kinase 1	Sometimes (5–29%)	In 1 condition
OPA3outer mitochondrial membrane lipid metabolism regulator OPA3	Sometimes (5–29%)	In 1 condition
PCNTpericentrin	Sometimes (5–29%)	In 1 condition
SPRED2sprouty related EVH1 domain containing 2	Sometimes (5–29%)	In 1 condition
STAG1STAG1 cohesin complex component	Sometimes (5–29%)	In 1 condition
TFE3transcription factor binding to IGHM enhancer 3	Sometimes (5–29%)	In 1 condition
TONSLtonsoku like, DNA repair protein	Sometimes (5–29%)	In 2 conditions

Show 12 more genes

Gene	How often it is seen	Conditions
ATP7AATPase copper transporting alpha	Not recorded	In 1 condition
BGNbiglycan	Not recorded	In 1 condition
CRLF1cytokine receptor like factor 1	Not recorded	In 1 condition
ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2	Not recorded	In 1 condition
FGFR2fibroblast growth factor receptor 2	Not recorded	In 1 condition
FLNAfilamin A	Not recorded	In 2 conditions
FLNBfilamin B	Not recorded	In 1 condition
GPC6glypican 6	Not recorded	In 1 condition
MMP13matrix metallopeptidase 13	Not recorded	In 1 condition
NPR2natriuretic peptide receptor 2	Not recorded	In 1 condition
SFRP4secreted frizzled related protein 4	Not recorded	In 1 condition
TDO2tryptophan 2,3-dioxygenase	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.

Narrower traits

Broader traits

Limited elbow movement

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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