Traits

Traits linked to LYRM7

LYR motif containing 7

The Human Phenotype Ontology links 37 traits to LYRM7, 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
Abnormal periventricular white matter morphology	Always
Babinski sign	Always
Brisk reflexes	Always
Coma	Always
Generalized brain degeneration	Always
Global developmental delay	Always
Intellectual disability	Always
Loss of ability to walk	Always
Thin corpus callosum	Always
Difficulty articulating speech	Often (30–79%)
Elevated brain lactate level by MRS	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Ataxia	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Encephalopathy	Not recorded
Lethargy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic disc pallor	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Often (30–79%)
Visual impairment	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Spastic tetraparesis	Always
Low muscle tone in trunk	Often (30–79%)
Muscle weakness	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased CSF lactate	Always
Increased lactate in body	Always
Increased blood alanine	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Increased respiratory rate or depth of breathing	Always
Respiratory failure	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex III	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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 LYRM7 and how often each is seen. Find out more at hpo.jax.org.

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