Özellikler

ADNP ile ilişkili özellikler

activity dependent neuroprotector homeobox

Human Phenotype Ontology, ADNP ile ilişkili 163 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Abnormalities of the fingers	Sık (%30–79)
Dropped arches	Sık (%30–79)
Abnormalities of the toes	Bazen (%5–29)
Broad big toe	Bazen (%5–29)
Curvature of little finger	Bazen (%5–29)
Gap between 1st and 2nd toes	Bazen (%5–29)
Knock knees	Bazen (%5–29)
More than five fingers or toes on hands or feet	Bazen (%5–29)
Prominent fingertip pads	Bazen (%5–29)
Short 4th toe	Bazen (%5–29)
Short lower limbs	Bazen (%5–29)
Single transverse palmar crease	Bazen (%5–29)
Tapered finger	Bazen (%5–29)
Broad thumb	Seyrek (%1–4)
Short fingers or toes	Seyrek (%1–4)
Webbed 2nd and 3rd toes	Seyrek (%1–4)
Small hand	Kaydedilmedi

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Acid reflux	Sık (%30–79)
Chronic constipation	Sık (%30–79)
Oral-pharyngeal dysphagia	Sık (%30–79)
Chronic diarrhea	Bazen (%5–29)
Constipation	Bazen (%5–29)
Episodic vomiting	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)
Gastrostomy tube feeding in infancy	Bazen (%5–29)
Poor swallowing	Bazen (%5–29)
Vomiting	Bazen (%5–29)
Inguinal hernia	Seyrek (%1–4)
Umbilical hernia	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Astigmatism	Bazen (%5–29)
Cerebral visual impairment	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Drooping of both upper eyelids	Bazen (%5–29)
Drooping upper eyelid	Bazen (%5–29)
Farsightedness	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)
Cat eye	Seyrek (%1–4)
Juvenile cataract	Seyrek (%1–4)
Lazy eye	Seyrek (%1–4)
Outward facing eye ball	Seyrek (%1–4)
Visual impairment	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Decreased muscle tone in infant	Sık (%30–79)
Double-Jointed	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Funnel chest	Bazen (%5–29)
Poor head control	Bazen (%5–29)
Prominent swayback	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Generalized low muscle tone in neonate	Seyrek (%1–4)
Spasticity and rigidity of muscles	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormal cardiovascular system morphology	Bazen (%5–29)
Abnormality of the heart	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Heart murmur	Bazen (%5–29)
Mitral regurgitation	Bazen (%5–29)
Mitral valve prolapse	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Cupped ear	Bazen (%5–29)
Ears rotated toward back of head	Bazen (%5–29)
Low-set ears	Bazen (%5–29)
Prominent ear	Bazen (%5–29)
Small ears	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Loss of bladder control	Çok sık (%80–99)
Enlarged kidney	Bazen (%5–29)
Enuresis nocturna	Bazen (%5–29)
Frequent urinary tract infections	Bazen (%5–29)
Undescended testes	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Bazen (%5–29)
Obesity	Bazen (%5–29)
Prenatal growth deficiency	Bazen (%5–29)
Short stature	Bazen (%5–29)
Truncal obesity	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Abnormality of the nail	Bazen (%5–29)
Thin skin	Bazen (%5–29)
Excessive hairiness	Seyrek (%1–4)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Meconium stained amniotic fluid	Bazen (%5–29)
Premature rupture of membranes	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Decreased response to growth hormone stimulation test	Bazen (%5–29)
Pineal cyst	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Aspiration	Bazen (%5–29)
Breathing difficulties	Seyrek (%1–4)

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Wide-spaced nipples	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: ADNP ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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