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Traits
Traits linked to LEMD3
LEM domain containing 3
The Human Phenotype Ontology links 83 traits to LEMD3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Osteopoikilosis | Always |
| Scoliosis | Always |
| Abnormal bone maturation | Very often (80–99%) |
| Abnormal cortical bone morphology | Very often (80–99%) |
| Increased bone mineral density | Very often (80–99%) |
| Abnormal maturation of the pelvis bone | Often (30–79%) |
| Abnormal shape of long bone | Often (30–79%) |
| Abnormal shape of pelvis bone | Often (30–79%) |
| Bone overgrowth | Often (30–79%) |
| Increased bone density in foot bone | Often (30–79%) |
| Sclerotic foci in hand bones | Often (30–79%) |
| Abnormal bone maturation of vertebra | Sometimes (5–29%) |
| Ankle pain | Sometimes (5–29%) |
| Bone pain | Sometimes (5–29%) |
| Joint stiffness | Sometimes (5–29%) |
| Limitation of joint mobility | Sometimes (5–29%) |
| Low muscle tone | Sometimes (5–29%) |
| Multiple fatty lumps | Sometimes (5–29%) |
| Muscle degeneration | Sometimes (5–29%) |
| Sclerotic scapulae | Sometimes (5–29%) |
| Flexed joint that cannot be straightened | Not recorded |
| Melorheostosis | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormality of the nostrils | Sometimes (5–29%) |
| Abnormally small head | Sometimes (5–29%) |
| Dacryocystitis | Sometimes (5–29%) |
| Decreased volume of lip | Sometimes (5–29%) |
| Downturned corners of mouth | Sometimes (5–29%) |
| Failure of development of between one and six teeth | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| Little lower jaw | Sometimes (5–29%) |
| Monobrow | Sometimes (5–29%) |
| Prominent nasal bridge | Sometimes (5–29%) |
| Thick eyebrow | Sometimes (5–29%) |
| Triangular face | Sometimes (5–29%) |
| Wide nose | Sometimes (5–29%) |
| Cleft palate | Rarely (1–4%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Left and right leg differ in length or width | Always |
| Abnormality of limb bone | Very often (80–99%) |
| Complete duplication of the outermost bones of the hand | Very often (80–99%) |
| Abnormality of the thighbone | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
| Hardened spots within wrist bones | Sometimes (5–29%) |
| Tarsal sclerosis | Sometimes (5–29%) |
| Webbed fingers or toes | Rarely (1–4%) |
| Femoral osteopoikilosis | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed speech and language development | Very often (80–99%) |
| Global developmental delay | Very often (80–99%) |
| Intellectual disability, mild | Very often (80–99%) |
| Specific learning disability | Very often (80–99%) |
| Tremor | Often (30–79%) |
| Addictive alcohol use | Sometimes (5–29%) |
| Chiari malformation | Sometimes (5–29%) |
| Fluid-filled cyst in spinal cord | Sometimes (5–29%) |
| Neurodevelopmental delay | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Epidermal nevus | Always |
| Mole | Always |
| Patchy darkened skin | Often (30–79%) |
| Abnormality of the skin | Sometimes (5–29%) |
| Firm lump under the skin | Sometimes (5–29%) |
| Keloids | Rarely (1–4%) |
| Scleroderma | Rarely (1–4%) |
| Connective tissue nevi | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormal kidney location | Sometimes (5–29%) |
| Horseshoe kidney | Sometimes (5–29%) |
| Small kidneys | Sometimes (5–29%) |
| Abnormality of the kidney | Rarely (1–4%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormality of the spleen | Sometimes (5–29%) |
| High blood pressure | Sometimes (5–29%) |
| Abnormality of the heart | Rarely (1–4%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Episodic pain | Sometimes (5–29%) |
| Hip pain | Sometimes (5–29%) |
| Joint pain | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Prenatal growth deficiency | Very often (80–99%) |
| Short stature | Very often (80–99%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Very often (80–99%) |
| Deeply set eye | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Autoimmunity | Rarely (1–4%) |
| Discoid lupus rash | Rarely (1–4%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Intestinal malrotation | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the endocrine system | Rarely (1–4%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Hoarse voice | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Diabetes mellitus | Sometimes (5–29%) |
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.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to LEMD3 and how often each is seen. Find out more at hpo.jax.org.
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