Traits

Traits linked to LIPT2

lipoyl(octanoyl) transferase 2

The Human Phenotype Ontology links 27 traits to LIPT2, 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
Absent speech development	Always
Delayed motor skills	Always
Elevated brain lactate level by MRS	Always
Encephalopathy	Always
Global developmental delay	Always
Profound global developmental delay	Always
Ventriculomegaly	Always
Absent posterior alpha rhythm	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Periventricular cysts	Often (30–79%)
Simplified gyral pattern	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always
Elevated blood glycine levels	Often (30–79%)
Increased circulating pyruvate concentration	Often (30–79%)
Increased lactate in body	Often (30–79%)
Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Low muscle tone	Often (30–79%)
Spastic tetraparesis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	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 LIPT2 and how often each is seen. Find out more at hpo.jax.org.

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