Traits

Traits linked to CCDC32

coiled-coil domain containing 32

The Human Phenotype Ontology links 23 traits to CCDC32, 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
Cleft lip	Always
Cleft palate	Always
Little lower jaw	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent spleen	Often (30–79%)
Hole in center of heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Short fingers or toes	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always
Abdominal situs inversus	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingerprints	Often (30–79%)
Absent/small nails	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hunched back	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Global developmental delay	Always

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	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 CCDC32 and how often each is seen. Find out more at hpo.jax.org.

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