Traits

Traits linked to NFU1

NFU1 iron-sulfur cluster scaffold

The Human Phenotype Ontology links 78 traits to NFU1, 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
Abnormal gait	Always
Abnormality of extrapyramidal motor function	Always
Clonus	Always
Corpus callosum atrophy	Always
Delayed ability to walk	Always
Elevated brain choline level by MRS	Always
Elevated brain lactate level by MRS	Always
Generalized-onset seizure	Always
Jerking	Always
Leg paralysis	Always
Lethargy	Always
Leukoencephalopathy	Always
Loss of ability to walk	Always
Motor regression	Always
Numbness	Always
Reduced brain N-acetyl aspartate level by MRS	Always
Repeated seizures without recovery between them	Always
Seizure affecting one half of brain	Always
Brisk reflexes	Very often (80–99%)
Encephalopathy	Often (30–79%)
Global developmental delay	Often (30–79%)
Knee clonus	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Peripheral demyelination	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Acidosis	Always
Alpha-aminoadipic aciduria	Always
Elevated circulating 2-hydroxybutyric acid concentration	Always
Episodic metabolic acidosis	Always
Fever	Always
High urine glycine levels	Always
High urine lactic acid levels	Always
Higher than normal levels of lactate in blood	Always
Increased CSF glycine concentration	Always
Increased CSF lactate	Always
Increased lactate in body	Always
Increased urine alpha-ketoglutarate concentration	Always
Elevated blood glycine levels	Very often (80–99%)
Glutaric aciduria	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Frequent falls	Always
Low muscle tone	Always
Low muscle tone in trunk	Always
Lower limb spasticity	Always
Opisthotonus	Always
Progressive spastic paraplegia	Always
Scoliosis	Always
Spastic paraplegia	Always
Spastic tetraparesis	Always
Spastic tetraplegia	Always
Spasticity and rigidity of muscles	Very often (80–99%)
Muscle weakness	Often (30–79%)
Appendicular spasticity	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex II	Always
Decreased activity of mitochondrial respiratory chain	Always
Decreased activity of the pyruvate dehydrogenase complex	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)
Slow heartbeats	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Respiratory function loss	Always
Apneic episodes in infancy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Facial paralysis	Always
Enlarged cisterna magna	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Club feet	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Feeding difficulties in infancy	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Faltering weight in infancy	Often (30–79%)

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 NFU1 and how often each is seen. Find out more at hpo.jax.org.

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