Traits

Traits linked to CTU2

cytosolic thiouridylase subunit 2

The Human Phenotype Ontology links 33 traits to CTU2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Little lower jaw	Always
Broad head shape	Often (30–79%)
Enlarged cisterna magna	Often (30–79%)
Receding chin	Often (30–79%)
Depressed nasal bridge	Not recorded
Dimple chin	Not recorded
High palate	Not recorded
Highly arched eyebrow	Not recorded
Narrow forehead	Not recorded
Upward slanting of the opening between the eyelids	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club foot on both sides	Often (30–79%)
Overlapping toe	Often (30–79%)
Preaxial polydactyly	Often (30–79%)
Overlapping fingers	Not recorded
Postaxial polydactyly	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Underdeveloped right heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Patent ductus arteriosus	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Always
Ambiguous external genitalia	Often (30–79%)
Crossed fused renal ectopia	Often (30–79%)
Short penis	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Often (30–79%)
Fewer or absent grooves in brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Epilepsy	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 CTU2 and how often each is seen. Find out more at hpo.jax.org.

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