Kjennetegn

Kjennetegn knyttet til ADNP

activity dependent neuroprotector homeobox

Human Phenotype Ontology knytter 163 kjennetegn til ADNP, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

ADNP

Abnormality of head or neck

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

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Intellectual disability	Alltid
Abnormal speech pattern	Svært ofte (80–99 %)
Autism spectrum disorder	Svært ofte (80–99 %)
Delayed speech and language development	Svært ofte (80–99 %)
Global developmental delay	Svært ofte (80–99 %)
Poor social interactions	Svært ofte (80–99 %)
Abnormal shape of brain	Ofte (30–79 %)
Abnormal temper tantrums	Ofte (30–79 %)
Anxiety	Ofte (30–79 %)
Attention deficit	Ofte (30–79 %)
Autism	Ofte (30–79 %)
Increased appetite	Ofte (30–79 %)
Moderate global developmental delay	Ofte (30–79 %)
Obsessive compulsive behavior	Ofte (30–79 %)
Severe global developmental delay	Ofte (30–79 %)
Absent speech development	Noen ganger (5–29 %)
Aggressive behavior	Noen ganger (5–29 %)
Degeneration of cerebrum	Noen ganger (5–29 %)
Difficulty sleeping	Noen ganger (5–29 %)
Echoing another person's speech	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
Focal white matter lesions	Noen ganger (5–29 %)
Gliosis	Noen ganger (5–29 %)
Happy demeanor	Noen ganger (5–29 %)
Irritability	Noen ganger (5–29 %)
Lateral ventricle dilatation	Noen ganger (5–29 %)
Loss of developmental milestones	Noen ganger (5–29 %)
Mild global developmental delay	Noen ganger (5–29 %)
Motor delay	Noen ganger (5–29 %)
Poor eye contact	Noen ganger (5–29 %)
Repetitive movements	Noen ganger (5–29 %)
Teeth grinding	Noen ganger (5–29 %)
Tonic seizure	Noen ganger (5–29 %)
Typical absence seizure	Noen ganger (5–29 %)
Underdevelopment of part of brain called corpus callosum	Noen ganger (5–29 %)
Ventriculomegaly	Noen ganger (5–29 %)
More active than typical	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Abnormalities of the fingers	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Abnormalities of the toes	Noen ganger (5–29 %)
Broad big toe	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Gap between 1st and 2nd toes	Noen ganger (5–29 %)
Knock knees	Noen ganger (5–29 %)
More than five fingers or toes on hands or feet	Noen ganger (5–29 %)
Prominent fingertip pads	Noen ganger (5–29 %)
Short 4th toe	Noen ganger (5–29 %)
Short lower limbs	Noen ganger (5–29 %)
Single transverse palmar crease	Noen ganger (5–29 %)
Tapered finger	Noen ganger (5–29 %)
Broad thumb	Sjelden (1–4%)
Short fingers or toes	Sjelden (1–4%)
Webbed 2nd and 3rd toes	Sjelden (1–4%)
Small hand	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Acid reflux	Ofte (30–79 %)
Chronic constipation	Ofte (30–79 %)
Oral-pharyngeal dysphagia	Ofte (30–79 %)
Chronic diarrhea	Noen ganger (5–29 %)
Constipation	Noen ganger (5–29 %)
Episodic vomiting	Noen ganger (5–29 %)
Feeding difficulties	Noen ganger (5–29 %)
Gastrostomy tube feeding in infancy	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)
Vomiting	Noen ganger (5–29 %)
Inguinal hernia	Sjelden (1–4%)
Umbilical hernia	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Astigmatism	Noen ganger (5–29 %)
Cerebral visual impairment	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping of both upper eyelids	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Farsightedness	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)
Cat eye	Sjelden (1–4%)
Juvenile cataract	Sjelden (1–4%)
Lazy eye	Sjelden (1–4%)
Outward facing eye ball	Sjelden (1–4%)
Visual impairment	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Decreased muscle tone in infant	Ofte (30–79 %)
Double-Jointed	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Funnel chest	Noen ganger (5–29 %)
Poor head control	Noen ganger (5–29 %)
Prominent swayback	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Generalized low muscle tone in neonate	Sjelden (1–4%)
Spasticity and rigidity of muscles	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Abnormality of the heart	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Heart murmur	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)
Mitral valve prolapse	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Cupped ear	Noen ganger (5–29 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Low-set ears	Noen ganger (5–29 %)
Prominent ear	Noen ganger (5–29 %)
Small ears	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Loss of bladder control	Svært ofte (80–99 %)
Enlarged kidney	Noen ganger (5–29 %)
Enuresis nocturna	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Noen ganger (5–29 %)
Obesity	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)
Short stature	Noen ganger (5–29 %)
Truncal obesity	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Abnormality of the nail	Noen ganger (5–29 %)
Thin skin	Noen ganger (5–29 %)
Excessive hairiness	Sjelden (1–4%)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Meconium stained amniotic fluid	Noen ganger (5–29 %)
Premature rupture of membranes	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased response to growth hormone stimulation test	Noen ganger (5–29 %)
Pineal cyst	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Aspiration	Noen ganger (5–29 %)
Breathing difficulties	Sjelden (1–4%)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Wide-spaced nipples	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent respiratory infections	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til ADNP og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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