Traits

Traits linked to NFIA

nuclear factor I A

The Human Phenotype Ontology links 40 traits to NFIA, 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 fine motor development	Always
Delayed motor skills	Always
Global developmental delay	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Aplasia/Hypoplasia of the corpus callosum	Very often (80–99%)
Attention deficit	Often (30–79%)
Chiari type I malformation	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Tethered cord	Often (30–79%)
Agenesis of corpus callosum	Not recorded
Cognitive impairment	Not recorded
Fluid-filled cyst in spinal cord	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Metopic synostosis	Always
Nasal tip, upturned	Always
Upward slanting of the opening between the eyelids	Always
Frontal bossing	Often (30–79%)
Deformity of the skull	Sometimes (5–29%)
Broad face	Not recorded
Broad forehead	Not recorded
Narrow mouth	Not recorded
Short chin	Not recorded
Short nose	Not recorded
Thin red part of the upper lip	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Always
Urinary tract abnormalities	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Small kidneys	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Always
Moyamoya phenomenon	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Overfolded ears	Always
Low-set ears	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Intraventricular hemorrhage	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Not recorded

Abnormality of the eye

Trait	How often it is seen
High eye pressure	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 NFIA and how often each is seen. Find out more at hpo.jax.org.

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