Traits

Traits linked to ADNP

activity dependent neuroprotector homeobox

The Human Phenotype Ontology links 163 traits to ADNP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

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

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Abnormal speech pattern	Very often (80–99%)
Autism spectrum disorder	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Poor social interactions	Very often (80–99%)
Abnormal shape of brain	Often (30–79%)
Abnormal temper tantrums	Often (30–79%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Increased appetite	Often (30–79%)
Moderate global developmental delay	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Echoing another person's speech	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Focal white matter lesions	Sometimes (5–29%)
Gliosis	Sometimes (5–29%)
Happy demeanor	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Poor eye contact	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Teeth grinding	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Typical absence seizure	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
More active than typical	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormalities of the fingers	Often (30–79%)
Dropped arches	Often (30–79%)
Abnormalities of the toes	Sometimes (5–29%)
Broad big toe	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
More than five fingers or toes on hands or feet	Sometimes (5–29%)
Prominent fingertip pads	Sometimes (5–29%)
Short 4th toe	Sometimes (5–29%)
Short lower limbs	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)
Broad thumb	Rarely (1–4%)
Short fingers or toes	Rarely (1–4%)
Webbed 2nd and 3rd toes	Rarely (1–4%)
Small hand	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Chronic constipation	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Chronic diarrhea	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Episodic vomiting	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Inguinal hernia	Rarely (1–4%)
Umbilical hernia	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping of both upper eyelids	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Cat eye	Rarely (1–4%)
Juvenile cataract	Rarely (1–4%)
Lazy eye	Rarely (1–4%)
Outward facing eye ball	Rarely (1–4%)
Visual impairment	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Double-Jointed	Often (30–79%)
Low muscle tone	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Generalized low muscle tone in neonate	Rarely (1–4%)
Spasticity and rigidity of muscles	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Heart murmur	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Very often (80–99%)
Enlarged kidney	Sometimes (5–29%)
Enuresis nocturna	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)
Obesity	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Short stature	Sometimes (5–29%)
Truncal obesity	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the nail	Sometimes (5–29%)
Thin skin	Sometimes (5–29%)
Excessive hairiness	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Meconium stained amniotic fluid	Sometimes (5–29%)
Premature rupture of membranes	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Sometimes (5–29%)
Pineal cyst	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Sometimes (5–29%)
Breathing difficulties	Rarely (1–4%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ADNP and how often each is seen. Find out more at hpo.jax.org.

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