Trăsături

Trăsături asociate cu DNM1

dynamin 1

Human Phenotype Ontology asociază 103 trăsături cu DNM1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Choking episodes	Întotdeauna
Clonus	Întotdeauna
Epilepsy	Întotdeauna
Epileptic encephalopathy	Întotdeauna
Epileptic spasm	Întotdeauna
Global developmental delay	Întotdeauna
Hypsarrhythmia	Întotdeauna
Increased reflexes	Întotdeauna
Intellectual disability	Întotdeauna
Myoclonic seizure	Întotdeauna
Reduced cerebral white matter volume	Întotdeauna
Severe global developmental delay	Întotdeauna
Thin corpus callosum	Întotdeauna
EEG with focal sharp slow waves	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Inability to walk	Foarte des (80–99%)
Abnormal shape of brainstem	Des (30–79%)
Abnormality of coordination	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Aggressive behavior	Des (30–79%)
Atypical absence seizure	Des (30–79%)
Atypical absence status epilepticus	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Brain degeneration	Des (30–79%)
Clonic seizure	Des (30–79%)
Colpocephaly	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Diffuse cerebral atrophy	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
Falls	Des (30–79%)
Focal impaired awareness seizure	Des (30–79%)
Generalized tonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Infantile spasms	Des (30–79%)
Involuntary movements	Des (30–79%)
Irritability	Des (30–79%)
Jerking	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Mental deterioration	Des (30–79%)
More active than typical	Des (30–79%)
Multifocal seizures	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Personality disorder	Des (30–79%)
Self-injurious behavior	Des (30–79%)
Sudden loss of muscle tone	Des (30–79%)
Tonic seizure	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Widened subarachnoid space	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Generalized myoclonic seizure	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Lack of feeling, emotion, interest	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Repeated seizures without recovery between them	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Almond shaped eyes	Întotdeauna
Broad opening between the eyelids	Întotdeauna
Development of small head that was not present at birth	Întotdeauna
Narrow forehead	Întotdeauna
Protruding tongue	Întotdeauna
Broad face	Des (30–79%)
Gum enlargement	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Appendicular spasticity	Întotdeauna
Low muscle tone	Întotdeauna
Poor head control	Întotdeauna
Generalized decreased muscle tone	Des (30–79%)
Opisthotonus	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Rigidity	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Optic atrophy	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Întotdeauna
Feeding difficulties	Des (30–79%)
Tube feeding	Des (30–79%)
Acid reflux	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Întotdeauna
Dizziness	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu DNM1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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