Traits

Traits linked to TNNT1

troponin T1, slow skeletal type

The Human Phenotype Ontology links 62 traits to TNNT1, 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
Breakdown of skeletal muscle	Always
Decreased hip abduction	Always
Difficulty walking up stairs	Always
Elbow contracture	Always
Minicore myopathy	Always
Muscle tissue disease	Always
Progressive muscle weakness	Always
Reduced spine movement	Always
Type 1 muscle fiber predominance	Always
Wasting of muscles near the body	Always
Z-band streaming	Always
Decreased muscle tone in infant	Often (30–79%)
EMG: myopathic abnormalities	Often (30–79%)
Gowers sign	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Low muscle tone	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Muscle degeneration	Often (30–79%)
Pigeon chest	Often (30–79%)
Poor head control	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Scoliosis	Often (30–79%)
Shoulder flexion contracture	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Difficulty running	Sometimes (5–29%)
Neck flexion weakness	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Hip contracture	Always
Ankle contracture	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Wrist flexion contracture	Often (30–79%)
Foot drop	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)
Pelvic girdle muscle weakness	Sometimes (5–29%)
Quadriceps weakness	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Weak shoulder muscles	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Tremor	Always
Absent reflexes	Often (30–79%)
Communication delay	Often (30–79%)
Motor delay	Often (30–79%)
Waddling gait	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Often (30–79%)
Myopathic facies	Often (30–79%)
Long face	Sometimes (5–29%)
Weakness of facial musculature	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Poor swallowing	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Reduced forced vital capacity	Often (30–79%)
Respiratory function loss	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Fatty replacement of ventricular myocardial tissue	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Slender build	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always

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 TNNT1 and how often each is seen. Find out more at hpo.jax.org.

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