Traits

Traits linked to MYPN

myopalladin

The Human Phenotype Ontology links 108 traits to MYPN, by body system: features seen in people with one of the gene's rare conditions.

MYPN

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Always
Type 1 muscle fiber predominance	Always
EMG: myopathic abnormalities	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Abnormal muscle fiber morphology	Often (30–79%)
Generalized muscle wasting	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Muscle stiffness	Often (30–79%)
Reduced spine movement	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Difficulty running	Sometimes (5–29%)
Difficulty walking up stairs	Sometimes (5–29%)
Diffuse skeletal muscle wasting	Sometimes (5–29%)
EMG abnormality	Sometimes (5–29%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Fatigable weakness of bulbar muscles	Sometimes (5–29%)
Fatiguable weakness of proximal limb muscles	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Frequent falls	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Lower limb amyotrophy	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Thoracic scoliosis	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Stretched and thinned heart muscle	Always
Abnormal left ventricular function	Very often (80–99%)
Increased left ventricular end-diastolic volume	Very often (80–99%)
Left ventricular systolic dysfunction	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
Interstitial cardiac fibrosis	Often (30–79%)
Left atrial enlargement	Often (30–79%)
Pulmonary venous hypertension	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
Reduced systolic function	Sometimes (5–29%)
Sinus tachycardia	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Fainting spell	Rarely (1–4%)
Stroke	Rarely (1–4%)
Ventricular septal hypertrophy	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Clumsiness	Often (30–79%)
Decreased reflex response	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Motor delay	Often (30–79%)
Slow movements	Often (30–79%)
Waddling gait	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Bulbar signs	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Poor fine motor coordination	Not recorded

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Often (30–79%)
Club feet	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)

Abnormality of head or neck

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

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)
Reduced vital capacity	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)
Central hypoventilation	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Often (30–79%)
Increased muscle lipid content	Often (30–79%)
Excess fluid in lungs	Sometimes (5–29%)
Mildly elevated creatine kinase	Sometimes (5–29%)
Peripheral edema	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	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Neuromuscular dysphagia	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)
Thromboembolism	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)
Drooping upper eyelid	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)
Fatigue	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Sometimes (5–29%)
Slender build	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
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

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

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 MYPN and how often each is seen. Find out more at hpo.jax.org.

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