Traits

Traits linked to CDT1

chromatin licensing and DNA replication factor 1

The Human Phenotype Ontology links 57 traits to CDT1, 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	Very often (80–99%)
Absence of lower jaw bones	Very often (80–99%)
Full lower lip	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Receding chin	Very often (80–99%)
Decreased size of maxilla	Often (30–79%)
Deformity of the skull	Often (30–79%)
High, narrow palate	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Small ears	Always
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%)
Ears rotated toward back of head	Often (30–79%)
Hearing impairment	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%)
Underdeveloped penis	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%)
Hook-shaped collarbone	Not recorded

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%)
Birth length less than 3rd percentile	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Absent kneecap	Always
Curvature of little finger	Very often (80–99%)
Back knee	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Elbow dislocation	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Breathing difficulty	Often (30–79%)
Emphysema	Often (30–79%)
Respiratory failure	Often (30–79%)

Abnormality of the nervous system

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

Abnormality of the breast

Trait	How often it is seen
Absent breast	Sometimes (5–29%)
Underdeveloped breasts	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)

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 CDT1 and how often each is seen. Find out more at hpo.jax.org.

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