Traits

Traits linked to FTCD

formimidoyltransferase cyclodeaminase

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

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Abnormal circulating folate concentration	Very often (80–99%)
Abnormal circulating histidine concentration	Very often (80–99%)
Abnormal concentration of acylcarnitine in the urine	Often (30–79%)
Increased circulating folate concentration	Often (30–79%)
Abnormal urinary amino-acid findings	Not recorded
Elevated urinary formiminoglutamic acid level	Not recorded
Positive ferric chloride test	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Autism	Rarely (1–4%)
Intellectual disability	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Megaloblastic anemia	Sometimes (5–29%)
Hypersegmentation of neutrophil nuclei	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Growth delay	Not 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 FTCD and how often each is seen. Find out more at hpo.jax.org.

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