Traits

Traits linked to DST

dystonin

The Human Phenotype Ontology links 139 traits to DST, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Ankle contracture	Always
Areflexia of lower limbs	Always
Areflexia of upper limbs	Always
Club foot on both sides	Always
Congenital finger flexion contractures	Always
Decreased arm strength	Always
Elbow flexion contracture	Always
Finger joint contracture	Always
Foot drop	Always
Hand clenching	Always
Inward turned thumb	Always
Overlapping fingers	Always
Partial knee cap dislocation	Always
Permanent flexion of the finger	Always
Peroneal muscle atrophy	Always
Proximal lower limb muscle weakness	Always
Weak grip	Always
Wrist drop	Always
Wrist flexion contracture	Always
Club feet	Often (30–79%)
Talipes	Often (30–79%)
Dislocated hip since birth	Sometimes (5–29%)
Talipes calcaneovalgus	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal autonomic nervous system physiology	Always
Bilateral vocal cord paresis	Always
Choroid plexus cyst	Always
Compound motor action potential abnormality	Always
Delayed speech and language development	Always
Encephalopathy	Always
Global developmental delay	Always
Inability to move vocal cords	Always
Intellectual disability, mild	Always
Loss of articulate speech	Always
Motor delay	Always
Pain insensitivity	Always
Peripheral hypomyelination	Always
Absent reflexes	Often (30–79%)
Epilepsy	Often (30–79%)
Profound global developmental delay	Often (30–79%)
Abnormality of movement	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Widened subarachnoid space	Sometimes (5–29%)
Damage to nerves that sense feeling	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal left ventricular function	Always
Heart stops beating	Always
Increased blood pressure in blood vessels of lungs	Always
Left axis deviation	Always
Noncompaction cardiomyopathy	Always
Patent foramen ovale	Always
Sinus bradycardia	Always
Sinus tachycardia	Always
Stretched and thinned heart muscle	Always
Elevated heart rate	Often (30–79%)
High blood pressure	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Left ventricular dilatation	Often (30–79%)
Mildly reduced left ventricular ejection fraction	Often (30–79%)
Redness of skin or mucous membrane	Often (30–79%)
Severely reduced left ventricular ejection fraction	Often (30–79%)
Slow heartbeats	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Decreased muscle tone in infant	Always
Distal arthrogryposis	Always
Elbow contracture	Always
EMG: myotonic discharges	Always
Flexed joint that cannot be straightened	Always
Generalized decreased muscle tone	Always
Hunched back	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Low muscle tone, in neonatal onset	Always
Muscle weakness	Always
Narrow chest	Always
Squared off shoulders	Always
Thoracic hemivertebrae	Always
Type 1 muscle fiber predominance	Always
Limited hip extension	Often (30–79%)
Small chest	Often (30–79%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Absent uvula	Always
Big calvaria	Always
High palate	Always
High, narrow palate	Always
Open mouth	Always
Yellowing of the whites of the eyes	Always
Myopathic facies	Often (30–79%)
Short chin	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Always
Breathing difficulties	Always
Low blood oxygen level	Always
Noisy breathing	Always
Respiratory failure	Always
Ventilator dependence with inability to wean	Always
Aspiration	Often (30–79%)
Neonatal respiratory distress	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Always
Abnormal dermoepidermal hemidesmosome morphology	Always
Poor toenail formation	Always
Small nail	Always
Blotching pigmentation of the skin	Often (30–79%)
Excessive sweating	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Meconium stained amniotic fluid	Always
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Dependency on parenteral nutrition	Always
Feeding difficulties	Always
Poor suck	Always
Poor swallowing	Always

Abnormality of the eye

Trait	How often it is seen
Corneal scarring	Always
Drooping of both upper eyelids	Always
Drooping upper eyelid	Always
Absence of tears in the eyes	Often (30–79%)
Absent corneal reflex	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Increased body weight	Always
Prenatal growth deficiency	Often (30–79%)
Small for gestational age	Sometimes (5–29%)
Growth delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Fluid around lungs	Often (30–79%)
Hyperpyrexia	Often (30–79%)
Nonimmune hydrops fetalis	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Asymmetric ears	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Weak cry	Always
Weak voice	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Retinal bleeding	Always

Abnormality of the immune system

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

Constitutional symptom

Trait	How often it is seen
Sudden death	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 DST and how often each is seen. Find out more at hpo.jax.org.

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