Egenskaper

Egenskaper kopplade till ADNP

activity dependent neuroprotector homeobox

Human Phenotype Ontology kopplar 163 egenskaper till ADNP, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Abnormalities of the fingers	Ofta (30–79 %)
Dropped arches	Ofta (30–79 %)
Abnormalities of the toes	Ibland (5–29 %)
Broad big toe	Ibland (5–29 %)
Curvature of little finger	Ibland (5–29 %)
Gap between 1st and 2nd toes	Ibland (5–29 %)
Knock knees	Ibland (5–29 %)
More than five fingers or toes on hands or feet	Ibland (5–29 %)
Prominent fingertip pads	Ibland (5–29 %)
Short 4th toe	Ibland (5–29 %)
Short lower limbs	Ibland (5–29 %)
Single transverse palmar crease	Ibland (5–29 %)
Tapered finger	Ibland (5–29 %)
Broad thumb	Sällan (1–4%)
Short fingers or toes	Sällan (1–4%)
Webbed 2nd and 3rd toes	Sällan (1–4%)
Small hand	Inte registrerat

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Acid reflux	Ofta (30–79 %)
Chronic constipation	Ofta (30–79 %)
Oral-pharyngeal dysphagia	Ofta (30–79 %)
Chronic diarrhea	Ibland (5–29 %)
Constipation	Ibland (5–29 %)
Episodic vomiting	Ibland (5–29 %)
Feeding difficulties	Ibland (5–29 %)
Gastrostomy tube feeding in infancy	Ibland (5–29 %)
Poor swallowing	Ibland (5–29 %)
Vomiting	Ibland (5–29 %)
Inguinal hernia	Sällan (1–4%)
Umbilical hernia	Sällan (1–4%)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Astigmatism	Ibland (5–29 %)
Cerebral visual impairment	Ibland (5–29 %)
Cross-eyed	Ibland (5–29 %)
Drooping of both upper eyelids	Ibland (5–29 %)
Drooping upper eyelid	Ibland (5–29 %)
Farsightedness	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)
Cat eye	Sällan (1–4%)
Juvenile cataract	Sällan (1–4%)
Lazy eye	Sällan (1–4%)
Outward facing eye ball	Sällan (1–4%)
Visual impairment	Inte registrerat

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Decreased muscle tone in infant	Ofta (30–79 %)
Double-Jointed	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Funnel chest	Ibland (5–29 %)
Poor head control	Ibland (5–29 %)
Prominent swayback	Ibland (5–29 %)
Scoliosis	Ibland (5–29 %)
Generalized low muscle tone in neonate	Sällan (1–4%)
Spasticity and rigidity of muscles	Sällan (1–4%)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormal cardiovascular system morphology	Ibland (5–29 %)
Abnormality of the heart	Ibland (5–29 %)
An opening in the wall separating the top two chambers of the heart	Ibland (5–29 %)
Heart murmur	Ibland (5–29 %)
Mitral regurgitation	Ibland (5–29 %)
Mitral valve prolapse	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Cupped ear	Ibland (5–29 %)
Ears rotated toward back of head	Ibland (5–29 %)
Low-set ears	Ibland (5–29 %)
Prominent ear	Ibland (5–29 %)
Small ears	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Loss of bladder control	Mycket ofta (80–99 %)
Enlarged kidney	Ibland (5–29 %)
Enuresis nocturna	Ibland (5–29 %)
Frequent urinary tract infections	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight	Ibland (5–29 %)
Obesity	Ibland (5–29 %)
Prenatal growth deficiency	Ibland (5–29 %)
Short stature	Ibland (5–29 %)
Truncal obesity	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Abnormality of the nail	Ibland (5–29 %)
Thin skin	Ibland (5–29 %)
Excessive hairiness	Sällan (1–4%)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Meconium stained amniotic fluid	Ibland (5–29 %)
Premature rupture of membranes	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Decreased response to growth hormone stimulation test	Ibland (5–29 %)
Pineal cyst	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Aspiration	Ibland (5–29 %)
Breathing difficulties	Sällan (1–4%)

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Wide-spaced nipples	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Recurrent respiratory infections	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till ADNP och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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