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Traits

Traits linked to GALNT3

polypeptide N-acetylgalactosaminyltransferase 3

The Human Phenotype Ontology links 14 traits to GALNT3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitHow often it is seen
Conjunctival whitish salt-like depositsNot recorded
Pulp stonesNot recorded
TaurodontiaNot recorded
Thin dental enamelNot recorded

Abnormality of the genitourinary system

TraitHow often it is seen
Decreased renal tubular phosphate excretionNot recorded
Increased calcium level in kidneyNot recorded
Increased renal tubular phosphate reabsorptionNot recorded

Abnormality of the musculoskeletal system

TraitHow often it is seen
Bone overgrowthAlways
Calcium buildup in soft tissues of bodyOften (30–79%)
Subperiosteal bone formationNot recorded

Laboratory abnormality

TraitHow often it is seen
Elevated circulating calcitriol concentrationAlways
High blood phosphate levelsAlways

Abnormality of the cardiovascular system

TraitHow often it is seen
Vascular calcificationNot recorded

Abnormality of the eye

TraitHow often it is seen
Angioid streaksNot 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 GALNT3 and how often each is seen. Find out more at hpo.jax.org.

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