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Traits
Traits linked to DNM2
dynamin 2
The Human Phenotype Ontology links 68 traits to DNM2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Distal muscle wasting | Always |
| EMG: myotonic discharges | Always |
| EMG: positive sharp waves | Always |
| Flexed joint that cannot be straightened | Always |
| Generalized decreased muscle tone | Always |
| Low muscle tone | Always |
| Thin ribs | Always |
| Wasting of muscles near the body | Always |
| Weakness of outermost muscles | Always |
| Centrally nucleated skeletal muscle fibers | Very often (80–99%) |
| EMG: myopathic abnormalities | Often (30–79%) |
| Excessive inward curvature of lower spine | Often (30–79%) |
| Neck muscle weakness | Often (30–79%) |
| Proximal neurogenic muscle weakness | Often (30–79%) |
| Type 1 muscle fiber predominance | Often (30–79%) |
| Decreased lung function due to weak breathing muscles | Sometimes (5–29%) |
| Congenital contracture | Not recorded |
| Prominent swayback | Not recorded |
| Tired easily | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Decreased nerve conduction velocity | Always |
| Twitching | Always |
| Absent reflexes | Very often (80–99%) |
| Abnormal gait | Often (30–79%) |
| Delayed motor skills | Often (30–79%) |
| EEG with burst suppression | Often (30–79%) |
| Loss of ability to walk | Sometimes (5–29%) |
| Peripheral axonal neuropathy | Sometimes (5–29%) |
| Segmental peripheral demyelination | Sometimes (5–29%) |
| Axonal degeneration | Not recorded |
| Decreased number of peripheral myelinated nerve fibers | Not recorded |
| Decreased reflex response | Not recorded |
| Decreased sensation in extremities | Not recorded |
| Motor delay | Not recorded |
| Onion bulb formation | Not recorded |
| Peripheral axonal degeneration | Not recorded |
| Segmental peripheral demyelination/remyelination | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Distal lower limb muscle weakness | Always |
| Proximal upper limb amyotrophy | Always |
| Proximal upper limb muscle weakness | Always |
| Abnormal foot muscles | Often (30–79%) |
| Proximal lower limb muscle weakness | Often (30–79%) |
| Shortening of the achilles tendon | Often (30–79%) |
| Areflexia of lower limbs | Sometimes (5–29%) |
| Increased size of calf muscles | Sometimes (5–29%) |
| High-arched foot | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Big head present at birth | Often (30–79%) |
| Weakness of facial musculature | Often (30–79%) |
| Bell's palsy | Not recorded |
| Sleepy facial expression | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Drooping upper eyelid | Very often (80–99%) |
| Weakness of muscles controlling eye movement | Often (30–79%) |
| Paralysis or weakness of muscles within or surrounding outer part of eye | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Mildly elevated creatine kinase | Always |
| Elevated blood creatine phosphokinase | Often (30–79%) |
| Malignant hyperthermia | Rarely (1–4%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Retinal bleeding | Always |
| Subdural hemorrhage | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Always |
| Less than 10 fetal movements in 12 hours | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Loss of bladder control | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Respiratory function loss | Always |
| Neonatal asphyxia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Small for gestational age | Always |
| Birth weight > 90th percentile | 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%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Exercise-induced muscle pain | 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 DNM2 and how often each is seen. Find out more at hpo.jax.org.
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