Traits

Traits linked to NANS

N-acetylneuraminate synthase

The Human Phenotype Ontology links 48 traits to NANS, 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
Abnormally small head	Not recorded
Broad head shape	Not recorded
Bulbous nose	Not recorded
Coarse facial features	Not recorded
Depressed nasal bridge	Not recorded
Eye folds	Not recorded
Full lips	Not recorded
Full lower lip	Not recorded
Low frontal hairline	Not recorded
Low hairline at back of neck	Not recorded
Monobrow	Not recorded
Prominent forehead	Not recorded
Short neck	Not recorded
Wide nose	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Degeneration of cerebrum	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Perisylvian polymicrogyria	Sometimes (5–29%)
Reduced cerebral white matter volume	Sometimes (5–29%)
Small basal ganglia	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Ataxia	Not recorded
Intellectual disability	Not recorded
Intellectual disability, severe	Not recorded
Motor delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Sometimes (5–29%)
Flattened vertebrae	Not recorded
Generalized decreased muscle tone	Not recorded
Irregular end part of long bone	Not recorded
Irregular vertebral endplates	Not recorded
Low muscle tone	Not recorded
Narrow iliac wing	Not recorded
Posterior scalloping of vertebral bodies	Not recorded
Small end part of bone	Not recorded
Spondyloepimetaphyseal dysplasia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Accelerated wrist bone maturation	Not recorded
Flared wide portion of long bone	Not recorded
Flat acetabular roof	Not recorded
Irregular wide portion of a long bone	Not recorded
Long fibula	Not recorded
Metaphyseal striations	Not recorded
Short neck of thighbone	Not recorded
Small carpal bones	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the ear

Trait	How often it is seen
Simple ear	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Always

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

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test