Traits

Traits linked to ZNF462

zinc finger protein 462

The Human Phenotype Ontology links 48 traits to ZNF462, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Motor delay	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Colpocephaly	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Intellectual disability, mild	Not recorded
Mild global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad philtrum	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Exaggerated cupid's bow	Often (30–79%)
Eye folds	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent metopic ridge	Often (30–79%)
Prominent nasal tip	Often (30–79%)
Short nose	Often (30–79%)
Pit in front of the ear	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the outer ear	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Cupped ear	Rarely (1–4%)
Horizontal crus of helix	Rarely (1–4%)
Overfolded ears	Rarely (1–4%)
Prominent ear	Rarely (1–4%)
Small ears	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Rarely (1–4%)
Dextrotransposition of the great arteries	Rarely (1–4%)
Left ventricular hypertrophy	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of limbs	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Attachment of thumb close to wrist	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Tube feeding	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Very often (80–99%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)

Abnormality of the endocrine system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Small fingernail	Rarely (1–4%)

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 ZNF462 and how often each is seen. Find out more at hpo.jax.org.

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