Traits

Traits linked to NFASC

neurofascin

The Human Phenotype Ontology links 35 traits to NFASC, 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
Global developmental delay	Always
Degeneration of cerebellum	Rarely (1–4%)
Epilepsy	Rarely (1–4%)
Aggressive behavior	Not recorded
Anxiety	Not recorded
Ataxia	Not recorded
Babinski sign	Not recorded
Decreased nerve conduction velocity	Not recorded
Decreased reflex response	Not recorded
Delayed ability to walk	Not recorded
Difficulty articulating speech	Not recorded
Difficulty performing quick and alternating movements	Not recorded
Increased reflexes	Not recorded
Intention tremor	Not recorded
Jerking	Not recorded
Lack of coordination of movement	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Retraction of the tongue	Always
Small anterior fontanelle	Always
Wide nasal bridge	Always
Abnormally small head	Rarely (1–4%)
Cleft palate	Not recorded
Prominent nasal bridge	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
11 pairs of ribs	Always
Low muscle tone	Always
Spasticity and rigidity of muscles	Always

Abnormality of the respiratory system

Trait	How often it is seen
Congenital laryngeal stridor	Always
Neonatal respiratory distress	Always
Respiratory function loss	Not recorded

Abnormality of limbs

Trait	How often it is seen
Finger joint hyperextensibility	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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

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