Trait

Abnormally shaped skeletal

Clinical name: Abnormal skeletal morphology

An abnormality of the form, structure, or size of the skeletal system.

HPO HP:0011842

Also called: Abnormality of skeletal morphology
Body system: Abnormality of the musculoskeletal system

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27 genes linked to Abnormally shaped skeletal

Changes in these genes cause rare conditions in which Abnormally shaped skeletal 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	Very often (80–99%)	In 2 conditions
AFF4ALF transcription elongation factor 4	Very often (80–99%)	In 1 condition
AGGF1angiogenic factor with G-patch and FHA domains 1	Very often (80–99%)	In 1 condition
MAN2B1mannosidase alpha class 2B member 1	Very often (80–99%)	In 1 condition
PIGTphosphatidylinositol glycan anchor biosynthesis class T	Very often (80–99%)	In 1 condition
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Very often (80–99%)	In 1 condition
SELENONselenoprotein N	Very often (80–99%)	In 2 conditions
VCPvalosin containing protein	Very often (80–99%)	In 1 condition
AHSGalpha 2-HS glycoprotein	Often (30–79%)	In 1 condition
ANKRD11ankyrin repeat domain 11	Often (30–79%)	In 1 condition
ASAH1N-acylsphingosine amidohydrolase 1	Often (30–79%)	In 1 condition
CHRNGcholinergic receptor nicotinic gamma subunit	Often (30–79%)	In 1 condition
HACD13-hydroxyacyl-CoA dehydratase 1	Often (30–79%)	In 1 condition
HBBhemoglobin subunit beta	Often (30–79%)	In 2 conditions
ITGA7integrin subunit alpha 7	Often (30–79%)	In 1 condition
ITGB6integrin subunit beta 6	Often (30–79%)	In 1 condition
LSSlanosterol synthase	Often (30–79%)	In 1 condition
MAP3K20mitogen-activated protein kinase kinase kinase 20	Often (30–79%)	In 1 condition
MYH3myosin heavy chain 3	Often (30–79%)	In 1 condition
MYL2myosin light chain 2	Often (30–79%)	In 1 condition
PUF60poly(U) binding splicing factor 60	Often (30–79%)	In 1 condition
SNX14sorting nexin 14	Often (30–79%)	In 1 condition
TPM2tropomyosin 2	Often (30–79%)	In 1 condition
TPM3tropomyosin 3	Often (30–79%)	In 1 condition
ALG11ALG11 alpha-1,2-mannosyltransferase	Sometimes (5–29%)	In 1 condition
PMM2phosphomannomutase 2	Sometimes (5–29%)	In 1 condition
WDR26WD repeat domain 26	Sometimes (5–29%)	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

Abnormality of the skeletal system

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 2026.10.17-8666dff2.

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