Traits

Traits linked to NOVA2

NOVA alternative splicing regulator 2

The Human Phenotype Ontology links 21 traits to NOVA2, 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
Delayed speech and language development	Always
Intellectual disability	Always
Motor delay	Always
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Inappropriate laughter	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Chiari type I malformation	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Recurrent hand flapping	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad head shape	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
High frontal hairline	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Sometimes (5–29%)
Drooping of both upper eyelids	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)

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 NOVA2 and how often each is seen. Find out more at hpo.jax.org.

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