Traits

Traits linked to IBA57

iron-sulfur cluster assembly factor IBA57

The Human Phenotype Ontology links 70 traits to IBA57, 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
Degeneration of cerebrum	Always
Elevated brain choline level by MRS	Always
More grooves in brain	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Loss of developmental milestones	Very often (80–99%)
Peripheral axonal neuropathy	Very often (80–99%)
Abnormal gait	Often (30–79%)
Brisk knee jerk	Often (30–79%)
Cavitating leukodystrophy	Often (30–79%)
Distal peripheral sensory neuropathy	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Leukodystrophy	Often (30–79%)
Periventricular white matter hyperintensities	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Elevated brain lactate level by MRS	Sometimes (5–29%)
Cerebral white matter atrophy	Rarely (1–4%)
Degeneration of cerebellum	Rarely (1–4%)
Absent reflexes	Not recorded
Cognitive impairment	Not recorded
Decreased sensation in extremities	Not recorded
Encephalopathy	Not recorded
Increased reflexes	Not recorded
Irritability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Low muscle tone	Always
Progressive spastic paraplegia	Very often (80–99%)
Distal muscle wasting	Often (30–79%)
EMG: neuropathic changes	Often (30–79%)
Generalized muscle weakness	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Joint contracture	Often (30–79%)
Muscle weakness	Often (30–79%)
Severely decreased muscle tone	Not recorded
Spastic paraplegia	Not recorded
Spastic tetraplegia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Beta-aminoisobutyric aciduria	Always
Elevated blood glycine levels	Always
Elevated lactate:pyruvate ratio	Always
Increased CSF glycine concentration	Always
Increased CSF lactate	Always
Increased lactate in body	Always
Higher than normal levels of lactate in blood	Often (30–79%)
Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts	Not recorded
Episodic fever	Not recorded
Metabolic acidosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Partial loss of field of vision	Often (30–79%)
Visual impairment	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex II	Always
Decreased activity of mitochondrial complex IV	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
High palate	Often (30–79%)
Receding chin	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Decreased Achilles reflex	Often (30–79%)
Distal lower limb muscle weakness	Often (30–79%)
High-arched foot	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Often (30–79%)
Apneic episodes in infancy	Sometimes (5–29%)
Respiratory function loss	Not recorded

Abnormality of the digestive system

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

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 IBA57 and how often each is seen. Find out more at hpo.jax.org.

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