Traits

Traits linked to CAD

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

The Human Phenotype Ontology links 19 traits to CAD, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Epileptic encephalopathy	Always
Global developmental delay	Always
Loss of developmental milestones	Always
Wide based walk	Always
Repeated seizures without recovery between them	Often (30–79%)
Generalized brain degeneration	Sometimes (5–29%)
Poor speech	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acanthocytosis	Always
Anisopoikilocytosis	Always
Low number of red blood cells or hemoglobin	Always
Schistocytosis	Always

Laboratory abnormality

Trait	How often it is seen
Abnormal glycosylation	Always
Accumulation of acid in body due to kidney problem	Always
High blood ammonia levels	Always

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Poor swallowing	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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

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