Traits

Traits linked to CUL4B

cullin 4B

The Human Phenotype Ontology links 81 traits to CUL4B, 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
Delayed speech and language development	Always
Intellectual disability	Always
Motor delay	Always
Abnormal speech pattern	Very often (80–99%)
Absent speech development	Very often (80–99%)
Aggressive behavior	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
More active than typical	Very often (80–99%)
Tremor	Very often (80–99%)
Epilepsy	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Wide based walk	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Cerebellar vermis atrophy	Sometimes (5–29%)
Cortical dysplasia	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Can't control feelings	Not recorded
Ventriculomegaly	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Very often (80–99%)
Monobrow	Very often (80–99%)
Open bite	Very often (80–99%)
Prominent nose	Very often (80–99%)
Short neck	Very often (80–99%)
Short philtrum	Very often (80–99%)
Wide mouth	Very often (80–99%)
Big calvaria	Often (30–79%)
Full lower lip	Often (30–79%)
High palate	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Decreased width of the skull	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Abnormally large tongue	Not recorded
Big lower jaw	Not recorded
Bulbous nose	Not recorded
Coarse facial features	Not recorded
Depressed nasal bridge	Not recorded
High forehead	Not recorded
Relatively large head	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)
High-arched foot	Very often (80–99%)
Short palm	Very often (80–99%)
Small hand	Very often (80–99%)
Short foot	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rounded shoulders	Very often (80–99%)
Distal lower limb amyotrophy	Often (30–79%)
Scoliosis	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Underdeveloped penis	Very often (80–99%)
Decreased testicular size	Often (30–79%)
Hypospadias	Not recorded
Short penis	Not recorded
Undescended testes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal hair pattern	Very often (80–99%)
Darkened and thickened skin	Sometimes (5–29%)
Excessive sweating	Sometimes (5–29%)
Stretch marks	Not recorded

Growth abnormality

Trait	How often it is seen
Abdominal obesity	Often (30–79%)
Obesity	Often (30–79%)
Short stature	Often (30–79%)
Wasting syndrome	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormal earlobe	Very often (80–99%)
Abnormally shaped ears	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Delayed puberty	Not recorded

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	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 CUL4B and how often each is seen. Find out more at hpo.jax.org.

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