Traits

Traits linked to TPM2

tropomyosin 2

The Human Phenotype Ontology links 183 traits to TPM2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint contracture	Always
Neck muscle weakness	Always
EMG: myopathic abnormalities	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Progressive muscle weakness	Very often (80–99%)
Scoliosis	Very often (80–99%)
Type 1 muscle fiber atrophy	Very often (80–99%)
Abnormal muscle fiber morphology	Often (30–79%)
Abnormality of the hip bone	Often (30–79%)
Abnormally shaped skeletal	Often (30–79%)
Axial muscle weakness	Often (30–79%)
Central core regions in muscle fibers	Often (30–79%)
Centrally nucleated skeletal muscle fibers	Often (30–79%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Fatigable weakness of bulbar muscles	Often (30–79%)
Fatigable weakness of distal limb muscles	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Generalized muscle wasting	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Muscle fiber splitting	Often (30–79%)
Muscle stiffness	Often (30–79%)
Neck flexion weakness	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Poor head control	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Reduced spine movement	Often (30–79%)
Tired easily	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Vertebral segmentation defect	Often (30–79%)
Weakness of muscles of respiration	Often (30–79%)
Angulated muscle fibers	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Sometimes (5–29%)
Difficulty running	Sometimes (5–29%)
Difficulty walking up stairs	Sometimes (5–29%)
Diffuse skeletal muscle wasting	Sometimes (5–29%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Fatigable weakness of respiratory muscles	Sometimes (5–29%)
Fatiguable weakness of proximal limb muscles	Sometimes (5–29%)
Fiber type grouping	Sometimes (5–29%)
Frequent falls	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Generalized muscle weakness	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Lower limb amyotrophy	Sometimes (5–29%)
Muscle weakness between ribs	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Poorly developed skeletal musculature	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Thoracic kyphosis	Sometimes (5–29%)
Thoracic scoliosis	Sometimes (5–29%)
Hunched back	Rarely (1–4%)
Decreased hip abduction	Not recorded
Muscle degeneration	Not recorded
Stiff shoulders	Not recorded

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Always
Aplasia/Hypoplasia of the radius	Very often (80–99%)
Bilateral single transverse palmar creases	Very often (80–99%)
Inward turned thumb	Very often (80–99%)
Overlapping fingers	Very often (80–99%)
Absent distal interphalangeal creases	Often (30–79%)
Club feet	Often (30–79%)
Finger bends toward pinky	Often (30–79%)
Foot drop	Often (30–79%)
Fused ankle bones	Often (30–79%)
Limb muscle weakness	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Rocker bottom foot	Often (30–79%)
Talipes	Often (30–79%)
Ulnar deviation of the hand or of fingers of the hand	Often (30–79%)
Ulnar deviation of the wrist	Often (30–79%)
Ankle flexion contracture	Sometimes (5–29%)
Dislocated hip since birth	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Elbow flexion contracture	Sometimes (5–29%)
Flexion contracture of finger	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Hip contracture	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)
Pelvic girdle muscle weakness	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Weak shoulder muscles	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Foot and ankle bend up toward shin of leg	Not recorded
Hand clenching	Not recorded
Joint contracture of the hand	Not recorded
Overlapping toe	Not recorded
Single transverse palmar crease	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Motor delay	Always
Absent reflexes	Often (30–79%)
Clumsiness	Often (30–79%)
Decreased reflex response	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Psychosis	Often (30–79%)
Slow movements	Often (30–79%)
Bulbar signs	Sometimes (5–29%)
Decreased muscle movement	Sometimes (5–29%)
Delayed ability to walk	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Falls	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Schizophrenia	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)
Poor fine motor coordination	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Webbed neck	Very often (80–99%)
Bell's palsy	Often (30–79%)
Dental crowding	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Myopathic facies	Often (30–79%)
Narrow face	Often (30–79%)
Short neck	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Chewing difficulties	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Decrease in jaw mobility	Not recorded
Long nasal bridge	Not recorded
Receding chin	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Cor pulmonale	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Myofiber disarray	Sometimes (5–29%)
Reduced systolic function	Sometimes (5–29%)
Sinus tachycardia	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Often (30–79%)
Respiratory function loss	Often (30–79%)
Central hypoventilation	Sometimes (5–29%)
High blood carbon dioxide level	Sometimes (5–29%)
Low blood oxygen level	Sometimes (5–29%)
Nocturnal hypoventilation	Sometimes (5–29%)
Reduced vital capacity	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Neuromuscular dysphagia	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
Feet or buttocks of fetus positioned near opening of uterus	Sometimes (5–29%)
Fetal akinesia sequence	Sometimes (5–29%)
High levels of amniotic fluid	Sometimes (5–29%)
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Often (30–79%)
Round ear	Often (30–79%)
Sensorineural hearing impairment	Rarely (1–4%)
Low-set ears	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)
Weight loss	Often (30–79%)
Slender build	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%)
Wide-set eyes	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)
Fatigue	Often (30–79%)
Exercise-induced muscle pain	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)
Increased muscle lipid content	Often (30–79%)
Mildly elevated creatine kinase	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%)

Abnormality of the voice

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

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Not recorded

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 TPM2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test