Traits

Traits linked to SLC30A7

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The Human Phenotype Ontology links 15 traits to SLC30A7, 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
Erythroid dysplasia	Always
Low blood neutrophil count	Always
Macrocytic anemia	Always
Megakaryocytopenia	Always
Persistence of hemoglobin F	Always

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Always
Elevated circulating follicle stimulating hormone level	Always
Underdeveloped pituitary gland	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Always
Undescended testes	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Prenatal growth deficiency	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always

Abnormality of the nervous system

Trait	How often it is seen
Chiari type I malformation	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 SLC30A7 and how often each is seen. Find out more at hpo.jax.org.

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