Traits

Traits linked to MYSM1

Myb like, SWIRM and MPN domains 1

The Human Phenotype Ontology links 44 traits to MYSM1, 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	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Decreased blood leukocyte number	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Erythroid dysplasia	Often (30–79%)
Low B cell count	Often (30–79%)
Low blood neutrophil count	Often (30–79%)
Low platelet count	Often (30–79%)
Megakaryocyte dysplasia	Often (30–79%)
Myelodysplasia	Often (30–79%)
Reticulocytopenia	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Coarse facial features	Often (30–79%)
Recurrent colds	Often (30–79%)
Delayed eruption of teeth	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Triangular head shape	Sometimes (5–29%)
Abnormally small head	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Rhizomelic arm shortening	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Short humerus	Sometimes (5–29%)
Shortened long bone of hand	Sometimes (5–29%)
Disproportionately short upper portion of limb	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Eczema	Sometimes (5–29%)
Inflammation of fat tissue	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Recurrent respiratory infections	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Small cerebrum	Often (30–79%)
Global developmental delay	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Often (30–79%)
Noncompaction cardiomyopathy	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Dry skin	Sometimes (5–29%)
Firm lump under the skin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the chest	Sometimes (5–29%)
Broad collarbone	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	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 MYSM1 and how often each is seen. Find out more at hpo.jax.org.

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