Traits

Traits linked to NADSYN1

NAD synthetase 1

The Human Phenotype Ontology links 14 traits to NADSYN1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Anomalous origin of left coronary artery from the pulmonary artery	Often (30–79%)
Aortic valve has two leaflets rather than three	Often (30–79%)
Double outlet right ventricle	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Underdeveloped left heart	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Short long bone	Not recorded
Shorter than typical length between neck and abdomen	Not recorded
Vertebral fusion	Not recorded
Vertebral segmentation defect	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Sometimes (5–29%)
Bilateral renal agenesis	Sometimes (5–29%)
Ureteral atresia	Sometimes (5–29%)

Abnormality of limbs

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

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	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 NADSYN1 and how often each is seen. Find out more at hpo.jax.org.

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