Trăsături

Trăsături asociate cu UBE4B

ubiquitination factor E4B

Human Phenotype Ontology asociază 99 trăsături cu UBE4B, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

UBE4B

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Absent speech development	Foarte des (80–99%)
Agenesis of corpus callosum	Foarte des (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Poor speech	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Autism	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Repetitive movements	Des (30–79%)
Self-injurious behavior	Des (30–79%)
Cancer of early nerve cells	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Increased appetite	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Horizontal eyebrow	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Pointed chin	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormality of the eyebrow	Des (30–79%)
Abnormally small head	Des (30–79%)
Broad head shape	Des (30–79%)
Delayed cranial suture closure	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Eye folds	Des (30–79%)
Flat nose	Des (30–79%)
Narrow mouth	Des (30–79%)
Abnormality of the neck	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
11 pairs of ribs	Uneori (5–29%)
Abnormal formation of the hip	Uneori (5–29%)
Cleft ribs	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Narrow spinal canal	Uneori (5–29%)
Rib fusion	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Abnormal cardiac septum morphology	Uneori (5–29%)
Abnormal heart valve morphology	Uneori (5–29%)
Abnormality of the spleen	Uneori (5–29%)
Aortic arch aneurysm	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Spider veins	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Poor swallowing	Des (30–79%)
Abnormality of the anus	Uneori (5–29%)
Abnormality of the intestine	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Annular pancreas	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Foarte des (80–99%)
Abnormality of vision	Des (30–79%)
Cross-eyed	Des (30–79%)
Severe farsightedness	Des (30–79%)
Absent pigmentation in the eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Visual impairment	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal female external genitalia	Uneori (5–29%)
Abnormality of the kidney	Uneori (5–29%)
Cystic kidney disease	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Permanent flexion of the finger	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Curvature of little finger	Des (30–79%)
Duplication of bones of the toes	Uneori (5–29%)
Left and right leg differ in length or width	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Small ears	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal blistering of the skin	Uneori (5–29%)
Excessive hairiness over body	Uneori (5–29%)
Flat, discolored area of skin	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Obesity	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of the immune system	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fatty infiltration of liver	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 UBE4B și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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