Traits

Traits linked to LMOD3

leiomodin 3

The Human Phenotype Ontology links 75 traits to LMOD3, by body system: features seen in people with one of the gene's rare conditions.

LMOD3

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bulbar palsy	Always
Decreased lung function due to weak breathing muscles	Always
Fatty replacement of skeletal muscle	Always
Generalized decreased muscle tone	Always
Generalized muscle weakness	Always
Muscle weakness	Always
Severely decreased muscle tone	Always
Abnormality of the chest	Often (30–79%)
Axial muscle weakness	Often (30–79%)
Fatigable weakness of distal limb muscles	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Increased connective tissue	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Multiple fractures present at birth	Often (30–79%)
Muscle degeneration	Often (30–79%)
Neck flexion weakness	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Abnormality of the diaphragm	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Sometimes (5–29%)
Congenital contracture	Sometimes (5–29%)
Fatigable weakness of respiratory muscles	Sometimes (5–29%)
Fatiguable weakness of proximal limb muscles	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Reduced spine movement	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Thin ribs	Sometimes (5–29%)
Hunched back	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Always
High palate	Often (30–79%)
Facial diplegia	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Narrow face	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Wide fontanelles	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Foot drop	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Club feet	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Decreased muscle movement	Often (30–79%)
Decreased reflex response	Often (30–79%)
Motor delay	Often (30–79%)
Falls	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Respiratory failure	Often (30–79%)
Respiratory function loss	Often (30–79%)
Nocturnal hypoventilation	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)
Premature birth	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged heart	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor swallowing	Often (30–79%)
Feeding difficulties in infancy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Sometimes (5–29%)
Short penis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Edema of the dorsum of hands	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	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 LMOD3 and how often each is seen. Find out more at hpo.jax.org.

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