Trăsături

Trăsături asociate cu ADNP

activity dependent neuroprotector homeobox

Human Phenotype Ontology asociază 163 trăsături cu ADNP, 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
Early eruption of teeth	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Drooping lower lip	Des (30–79%)
Full lower lip	Des (30–79%)
High frontal hairline	Des (30–79%)
Long philtrum	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Prominent forehead	Des (30–79%)
Short nose	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Asymmetry of the posterior head	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Broad face	Uneori (5–29%)
Broad nasal tip	Uneori (5–29%)
Chewing difficulties	Uneori (5–29%)
Cleft eyelid	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Decreased size of tooth	Uneori (5–29%)
Decreased volume of lip	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Failure of development of more than six teeth	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Long face	Uneori (5–29%)
Lower eyelid folded out	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Posterior plagiocephaly	Uneori (5–29%)
Recurrent colds	Uneori (5–29%)
Short chin	Uneori (5–29%)
Short opening between the eyelids	Uneori (5–29%)
Slanting of the opening between the eyelids	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Tongue tied	Uneori (5–29%)
Triangular head shape	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Abnormally small head	Rar (1–4%)
Broad head shape	Rar (1–4%)
Broad opening between the eyelids	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Sparse scalp hair	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Abnormal speech pattern	Foarte des (80–99%)
Autism spectrum disorder	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Poor social interactions	Foarte des (80–99%)
Abnormal shape of brain	Des (30–79%)
Abnormal temper tantrums	Des (30–79%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Autism	Des (30–79%)
Increased appetite	Des (30–79%)
Moderate global developmental delay	Des (30–79%)
Obsessive compulsive behavior	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Absent speech development	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Echoing another person's speech	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Focal white matter lesions	Uneori (5–29%)
Gliosis	Uneori (5–29%)
Happy demeanor	Uneori (5–29%)
Irritability	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Mild global developmental delay	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Poor eye contact	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Teeth grinding	Uneori (5–29%)
Tonic seizure	Uneori (5–29%)
Typical absence seizure	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
More active than typical	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormalities of the fingers	Des (30–79%)
Dropped arches	Des (30–79%)
Abnormalities of the toes	Uneori (5–29%)
Broad big toe	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Knock knees	Uneori (5–29%)
More than five fingers or toes on hands or feet	Uneori (5–29%)
Prominent fingertip pads	Uneori (5–29%)
Short 4th toe	Uneori (5–29%)
Short lower limbs	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Tapered finger	Uneori (5–29%)
Broad thumb	Rar (1–4%)
Short fingers or toes	Rar (1–4%)
Webbed 2nd and 3rd toes	Rar (1–4%)
Small hand	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Chronic constipation	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Chronic diarrhea	Uneori (5–29%)
Constipation	Uneori (5–29%)
Episodic vomiting	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Vomiting	Uneori (5–29%)
Inguinal hernia	Rar (1–4%)
Umbilical hernia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Astigmatism	Uneori (5–29%)
Cerebral visual impairment	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping of both upper eyelids	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Cat eye	Rar (1–4%)
Juvenile cataract	Rar (1–4%)
Lazy eye	Rar (1–4%)
Outward facing eye ball	Rar (1–4%)
Visual impairment	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Double-Jointed	Des (30–79%)
Low muscle tone	Des (30–79%)
Funnel chest	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Generalized low muscle tone in neonate	Rar (1–4%)
Spasticity and rigidity of muscles	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Heart murmur	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Cupped ear	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Small ears	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Loss of bladder control	Foarte des (80–99%)
Enlarged kidney	Uneori (5–29%)
Enuresis nocturna	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Uneori (5–29%)
Obesity	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)
Short stature	Uneori (5–29%)
Truncal obesity	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormality of the nail	Uneori (5–29%)
Thin skin	Uneori (5–29%)
Excessive hairiness	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Meconium stained amniotic fluid	Uneori (5–29%)
Premature rupture of membranes	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Pineal cyst	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Aspiration	Uneori (5–29%)
Breathing difficulties	Rar (1–4%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	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 ADNP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu