Trăsături

Trăsături asociate cu UBE3A

ubiquitin protein ligase E3A

Human Phenotype Ontology asociază 96 trăsături cu UBE3A, 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
Ataxia	Întotdeauna
Delayed ability to walk	Întotdeauna
EEG abnormality	Întotdeauna
Global developmental delay	Întotdeauna
Happy demeanor	Întotdeauna
Intellectual disability, severe	Întotdeauna
Motor delay	Întotdeauna
Attention deficit	Foarte des (80–99%)
Clumsiness	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG with abnormally slow frequencies	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Neurodevelopmental delay	Foarte des (80–99%)
Obsessive compulsive behavior	Foarte des (80–99%)
Sleep-wake cycle disturbance	Foarte des (80–99%)
Wide based walk	Foarte des (80–99%)
Abnormal eating behavior	Des (30–79%)
Abnormal speech pattern	Des (30–79%)
Apraxia	Des (30–79%)
Autism	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Delayed myelination	Des (30–79%)
Inappropriate laughter	Des (30–79%)
Increased appetite	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
More active than typical	Des (30–79%)
Overactive lower leg reflex	Des (30–79%)
Poor speech	Des (30–79%)
Short attention span	Des (30–79%)
Tongue thrusting	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Abnormality of balance	Uneori (5–29%)
Abnormality of movement	Uneori (5–29%)
Atypical absence seizure	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Bilateral tonic-clonic seizure with generalized onset	Uneori (5–29%)
Brain imaging abnormality	Uneori (5–29%)
EEG with focal epileptiform discharges	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Hyperorality	Uneori (5–29%)
Jerking	Uneori (5–29%)
Recurrent hand flapping	Uneori (5–29%)
Shortened sleep phase	Uneori (5–29%)
Tremor	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Neînregistrat
Increased reflexes	Neînregistrat
Limb tremor	Neînregistrat
Paroxysmal bursts of laughter	Neînregistrat
Progressive gait ataxia	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Development of small head that was not present at birth	Întotdeauna
Head stopped growing	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Drooling	Des (30–79%)
Flat back of skull	Des (30–79%)
Mild microcephaly	Des (30–79%)
Protruding tongue	Des (30–79%)
Wide mouth	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Big calvaria	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Expressionless face	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Abnormally large tongue	Neînregistrat
Broad head shape	Neînregistrat
Decreased size of maxilla	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Light eye color	Des (30–79%)
Blue eyes	Neînregistrat
Close sighted	Neînregistrat
Deeply set eye	Neînregistrat
Involuntary, rapid, rhythmic eye movements	Neînregistrat
Outward facing eye ball	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Functional motor deficit	Des (30–79%)
Scoliosis	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Des (30–79%)
Finger syndactyly	Uneori (5–29%)
Limitation of movement at ankles	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Loss of hair color	Des (30–79%)
Patchy lightened skin	Des (30–79%)
Fair hair	Neînregistrat

Growth abnormality

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

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Heat intolerance	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 UBE3A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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