Trăsături

Trăsături asociate cu FOXP2

forkhead box P2

Human Phenotype Ontology asociază 70 trăsături cu FOXP2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FOXP2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Abnormal prosody	Des (30–79%)
Communication delay	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Grammar-specific speech disorder	Des (30–79%)
Incomprehensible speech	Des (30–79%)
Poor fine motor coordination	Des (30–79%)
Poor speech	Des (30–79%)
Receptive language delay	Des (30–79%)
Specific learning disability	Des (30–79%)
Speech apraxia	Des (30–79%)
Abnormal caudate nucleus morphology	Uneori (5–29%)
Abnormal temper tantrums	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Caudate atrophy	Uneori (5–29%)
Delayed social development	Uneori (5–29%)
Hypoplasia of the olfactory bulb	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Neurodevelopmental delay	Uneori (5–29%)
Poor gross motor coordination	Uneori (5–29%)
Severe global developmental delay	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Abnormal basal ganglia morphology	Neînregistrat
Oromotor apraxia	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Asymmetry of the posterior head	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Decreased size of maxilla	Uneori (5–29%)
Drooling	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Prominent nose	Uneori (5–29%)
Short opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Wide nasal ridge	Uneori (5–29%)
Wry neck	Uneori (5–29%)
High, narrow palate	Rar (1–4%)
Horizontal eyebrow	Rar (1–4%)
Submucous cleft hard palate	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Childhood onset sensorineural hearing impairment	Uneori (5–29%)
Enlarged cochlear aqueduct	Uneori (5–29%)
Hypoplasia of the cochlea	Uneori (5–29%)
Hypoplasia of the semicircular canal	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Overfolded ears	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Nasogastric tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent ear infections	Des (30–79%)
Asthma	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of index finger	Uneori (5–29%)
Prominent fingertip pads	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Patent ductus arteriosus after birth at term	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Esodeviation	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of von Willebrand factor	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Enuresis nocturna	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Increased urinary galactose level	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 FOXP2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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