Trăsături

Trăsături asociate cu SPEN

spen family transcriptional repressor

Human Phenotype Ontology asociază 154 trăsături cu SPEN, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

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%)
Broad opening between the eyelids	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Dental crowding	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Drooling	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Full lips	Uneori (5–29%)
Fullness around the eyes	Uneori (5–29%)
High frontal hairline	Uneori (5–29%)
High palate	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long eyebrows	Uneori (5–29%)
Long eyelashes	Uneori (5–29%)
Long face	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Oval face	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Prominent nasal tip	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
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%)
Poor speech	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Abnormality of balance	Des (30–79%)
Aggressive behavior	Des (30–79%)
Autism	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Repetitive movements	Des (30–79%)
Self-injurious behavior	Des (30–79%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Gray matter heterotopia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Increased appetite	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Poor eye contact	Uneori (5–29%)
Tremor	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%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Spider veins	Uneori (5–29%)
Strawberry mark	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Tetralogy of Fallot	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%)
Wide-set eyes	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 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%)
Dropped arches	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Left and right leg differ in length or width	Uneori (5–29%)
Tapered finger	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 ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Large earlobe	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Small ears	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 the integument

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

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Underactive thyroid	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 prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal distress	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 SPEN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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