Traits

Traits linked to MDM4

MDM4 regulator of p53

The Human Phenotype Ontology links 13 traits to MDM4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bone marrow failure	Always
Increased mean corpuscular volume	Often (30–79%)
Persistence of hemoglobin F	Often (30–79%)
Decreased blood lymphocyte number	Not recorded
Low blood neutrophil count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Recurrent sinus disease	Sometimes (5–29%)
Squamous cell carcinoma of the tongue	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Often (30–79%)
Muscle ache	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Short telomere length	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	Sometimes (5–29%)

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 MDM4 and how often each is seen. Find out more at hpo.jax.org.

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