Traits

Traits linked to CDC45

cell division cycle 45

The Human Phenotype Ontology links 87 traits to CDC45, 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
Thin eyebrow	Always
Abnormally small head	Very often (80–99%)
Absence of lower jaw bones	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Progressively abnormally small cranium	Very often (80–99%)
Receding chin	Very often (80–99%)
Decreased size of maxilla	Often (30–79%)
High, narrow palate	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Copper beaten skull	Sometimes (5–29%)
Early closure of midline skull joint	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Wider-than-typical soft spot of skull	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Absent kneecap	Often (30–79%)
Absent/small kneecap	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Bowed legs	Sometimes (5–29%)
Clubbing of fingers and toes	Sometimes (5–29%)
Dislocated radial head	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Extra thumb	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)
Webbed index through ring fingers	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Very often (80–99%)
Enlarged clitoris	Often (30–79%)
Small clitoris	Often (30–79%)
Small labia majora	Often (30–79%)
Underdeveloped inner lips	Often (30–79%)
Epispadias	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Urethral stricture	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormal shape/structure of ear	Very often (80–99%)
Abnormality of the outer ear	Very often (80–99%)
Absent ear	Very often (80–99%)
Absent ear canal	Very often (80–99%)
Small ears	Very often (80–99%)
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of end part of bone	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Slender long bone	Very often (80–99%)
Abnormality of the ribs	Often (30–79%)
Absent collarbone	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Vertebral segmentation defect	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Absent anus	Sometimes (5–29%)
Anteriorly placed anus	Sometimes (5–29%)
Duodenal stenosis	Sometimes (5–29%)
Meconium peritonitis	Sometimes (5–29%)
Narrowing of anal opening	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Growth delay	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Severe short stature	Very often (80–99%)
Decreased body weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Complete atrioventricular canal defect	Sometimes (5–29%)
Heart block	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Second degree atrioventricular block	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Chiari type I malformation	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Breathing difficulty	Often (30–79%)
Respiratory failure	Often (30–79%)
Poorly developed lungs	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Absent breast	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 CDC45 and how often each is seen. Find out more at hpo.jax.org.

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