Traits

Traits linked to MYF6

myogenic factor 6

The Human Phenotype Ontology links 29 traits to MYF6, by body system: features seen in people with one of the gene's rare conditions.

MYF6

Abnormality of the musculoskeletal system

Trait	How often it is seen
Centrally nucleated skeletal muscle fibers	Very often (80–99%)
EMG: myopathic abnormalities	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Thin ribs	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormal foot muscles	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Proximal upper limb muscle weakness	Often (30–79%)
Areflexia of lower limbs	Sometimes (5–29%)
Increased size of calf muscles	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Delayed motor skills	Often (30–79%)
Twitching	Often (30–79%)
Peripheral axonal neuropathy	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Mildly elevated creatine kinase	Often (30–79%)
Malignant hyperthermia	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Big head present at birth	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Collection of dilated blood vessels that forms mass	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Pyloric stenosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal asphyxia	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	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 MYF6 and how often each is seen. Find out more at hpo.jax.org.

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