Traits

Traits linked to MDH1

malate dehydrogenase 1

The Human Phenotype Ontology links 16 traits to MDH1, 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
Epilepsy	Not recorded
Epileptic encephalopathy	Not recorded
Global developmental delay	Not recorded
Hypoplasia of the pons	Not recorded
Hypsarrhythmia	Not recorded
Inferior cerebellar vermis hypoplasia	Not recorded
Partial agenesis of the corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Crease in skin under the eye	Not recorded
Depressed nasal bridge	Not recorded
Drooping lower lip	Not recorded
High forehead	Not recorded
Progressively abnormally small cranium	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Not recorded
Spasticity and rigidity of muscles	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood glutamate levels	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 MDH1 and how often each is seen. Find out more at hpo.jax.org.

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