Traits

Traits linked to MYL2

myosin light chain 2

The Human Phenotype Ontology links 94 traits to MYL2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Biventricular hypertrophy	Always
Enlarged and thickened heart muscle	Always
Left atrial enlargement	Always
Myocardial fibrosis	Always
Myofiber disarray	Always
Right atrial enlargement	Always
Left ventricular hypertrophy	Very often (80–99%)
Cardiogenic shock	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Stretched and thinned heart muscle	Often (30–79%)
Systolic anterior motion of the mitral valve	Often (30–79%)
T-wave inversion	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
Asymmetric septal hypertrophy	Sometimes (5–29%)
Cor pulmonale	Sometimes (5–29%)
Left bundle branch block	Sometimes (5–29%)
Left ventricular noncompaction cardiomyopathy	Sometimes (5–29%)
Restrictive cardiomyopathy	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Palpitations	Not recorded
Ventricular septal hypertrophy	Not recorded
Ventricular tachycardia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Generalized muscle weakness	Always
Type 1 fibers relatively smaller than type 2 fibers	Always
Low muscle tone	Very often (80–99%)
Progressive muscle weakness	Very often (80–99%)
Type 1 muscle fiber atrophy	Very often (80–99%)
Abnormally shaped skeletal	Often (30–79%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Fatigable weakness of bulbar muscles	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Poor head control	Often (30–79%)
Tired easily	Often (30–79%)
Weakness of muscles of respiration	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Muscle weakness between ribs	Sometimes (5–29%)
Poorly developed skeletal musculature	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Dislocated hip since birth	Sometimes (5–29%)
Elbow flexion contracture	Sometimes (5–29%)
Flexion contracture of finger	Sometimes (5–29%)
Foot drop	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Hip contracture	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Pelvic girdle muscle weakness	Sometimes (5–29%)
Weak shoulder muscles	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Dental crowding	Often (30–79%)
High palate	Often (30–79%)
Myopathic facies	Often (30–79%)
Tented mouth	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Bell's palsy	Sometimes (5–29%)
Chewing difficulties	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Clonus	Always
Tremor	Always
Absent reflexes	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Motor delay	Often (30–79%)
Difficulty sleeping	Sometimes (5–29%)
Headache	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Often (30–79%)
Cardiorespiratory arrest	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)
High blood carbon dioxide level	Sometimes (5–29%)
Low blood oxygen level	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Feeding difficulties	Often (30–79%)
Poor appetite	Often (30–79%)
Poor swallowing	Often (30–79%)
Nasogastric tube feeding in infancy	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)
Less than 10 fetal movements in 12 hours	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 immune system

Trait	How often it is seen
Aspiration pneumonia	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Chest pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Weight loss	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Not recorded

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)

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 MYL2 and how often each is seen. Find out more at hpo.jax.org.

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