Kenmerken

Kenmerken gekoppeld aan ADNP

activity dependent neuroprotector homeobox

De Human Phenotype Ontology koppelt 163 kenmerken aan ADNP, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

ADNP

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Abnormalities of the fingers	Vaak (30–79%)
Dropped arches	Vaak (30–79%)
Abnormalities of the toes	Soms (5–29%)
Broad big toe	Soms (5–29%)
Curvature of little finger	Soms (5–29%)
Gap between 1st and 2nd toes	Soms (5–29%)
Knock knees	Soms (5–29%)
More than five fingers or toes on hands or feet	Soms (5–29%)
Prominent fingertip pads	Soms (5–29%)
Short 4th toe	Soms (5–29%)
Short lower limbs	Soms (5–29%)
Single transverse palmar crease	Soms (5–29%)
Tapered finger	Soms (5–29%)
Broad thumb	Zelden (1–4%)
Short fingers or toes	Zelden (1–4%)
Webbed 2nd and 3rd toes	Zelden (1–4%)
Small hand	Niet vastgelegd

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Acid reflux	Vaak (30–79%)
Chronic constipation	Vaak (30–79%)
Oral-pharyngeal dysphagia	Vaak (30–79%)
Chronic diarrhea	Soms (5–29%)
Constipation	Soms (5–29%)
Episodic vomiting	Soms (5–29%)
Feeding difficulties	Soms (5–29%)
Gastrostomy tube feeding in infancy	Soms (5–29%)
Poor swallowing	Soms (5–29%)
Vomiting	Soms (5–29%)
Inguinal hernia	Zelden (1–4%)
Umbilical hernia	Zelden (1–4%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Astigmatism	Soms (5–29%)
Cerebral visual impairment	Soms (5–29%)
Cross-eyed	Soms (5–29%)
Drooping of both upper eyelids	Soms (5–29%)
Drooping upper eyelid	Soms (5–29%)
Farsightedness	Soms (5–29%)
Wide-set eyes	Soms (5–29%)
Cat eye	Zelden (1–4%)
Juvenile cataract	Zelden (1–4%)
Lazy eye	Zelden (1–4%)
Outward facing eye ball	Zelden (1–4%)
Visual impairment	Niet vastgelegd

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Decreased muscle tone in infant	Vaak (30–79%)
Double-Jointed	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Funnel chest	Soms (5–29%)
Poor head control	Soms (5–29%)
Prominent swayback	Soms (5–29%)
Scoliosis	Soms (5–29%)
Generalized low muscle tone in neonate	Zelden (1–4%)
Spasticity and rigidity of muscles	Zelden (1–4%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormal cardiovascular system morphology	Soms (5–29%)
Abnormality of the heart	Soms (5–29%)
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Heart murmur	Soms (5–29%)
Mitral regurgitation	Soms (5–29%)
Mitral valve prolapse	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Cupped ear	Soms (5–29%)
Ears rotated toward back of head	Soms (5–29%)
Low-set ears	Soms (5–29%)
Prominent ear	Soms (5–29%)
Small ears	Soms (5–29%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Loss of bladder control	Heel vaak (80–99%)
Enlarged kidney	Soms (5–29%)
Enuresis nocturna	Soms (5–29%)
Frequent urinary tract infections	Soms (5–29%)
Undescended testes	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Soms (5–29%)
Obesity	Soms (5–29%)
Prenatal growth deficiency	Soms (5–29%)
Short stature	Soms (5–29%)
Truncal obesity	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Abnormality of the nail	Soms (5–29%)
Thin skin	Soms (5–29%)
Excessive hairiness	Zelden (1–4%)

Abnormality of prenatal development or birth

Kenmerk	Hoe vaak het voorkomt
Meconium stained amniotic fluid	Soms (5–29%)
Premature rupture of membranes	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Decreased response to growth hormone stimulation test	Soms (5–29%)
Pineal cyst	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Aspiration	Soms (5–29%)
Breathing difficulties	Zelden (1–4%)

Abnormality of the breast

Kenmerk	Hoe vaak het voorkomt
Wide-spaced nipples	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent respiratory infections	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan ADNP gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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