Traits

Traits linked to CTH

cystathionine gamma-lyase

The Human Phenotype Ontology links 8 traits to CTH, 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	Often (30–79%)
Intellectual disability	Often (30–79%)
Tremor	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine cystathionine levels	Always
High blood cystathionine levels	Often (30–79%)

Abnormality of limbs

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

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Sometimes (5–29%)

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

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