Traits

Traits linked to LYRM4

LYR motif containing 4

The Human Phenotype Ontology links 26 traits to LYRM4, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
High urine lactic acid levels	Always
Increased lactate in body	Always
Metabolic acidosis	Always
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
High levels of ketone bodies	Often (30–79%)
Increased CSF lactate	Often (30–79%)
Macrovesicular hepatic steatosis	Often (30–79%)
Microvesicular hepatic steatosis	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Enlarged liver	Often (30–79%)
Feeding difficulties	Often (30–79%)
Poor suck	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased variability in muscle fiber diameter	Often (30–79%)
Low muscle tone	Often (30–79%)
Poor head control	Often (30–79%)
Low muscle tone, in neonatal onset	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Elevated brain lactate level by MRS	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Persistent head lag	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always
Noisy breathing	Always

Abnormal cellular phenotype

Trait	How often it is seen
Mitochondrial swelling	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Weak cry	Often (30–79%)

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 LYRM4 and how often each is seen. Find out more at hpo.jax.org.

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