Traits

Traits linked to WDR4

WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit

The Human Phenotype Ontology links 69 traits to WDR4, by body system: features seen in people with one of the gene's rare conditions.

WDR4

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Brisk reflexes	Always
Cerebellar vermis atrophy	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Difficulty sleeping	Always
EEG abnormality	Always
Epilepsy	Always
Global developmental delay	Always
Intellectual disability	Always
Motor delay	Always
Paroxysmal bursts of laughter	Always
Partial agenesis of the corpus callosum	Always
Profound global developmental delay	Always
Repetitive movements	Always
Cognitive impairment	Very often (80–99%)
Abnormality of neuronal migration	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Aqueductal stenosis	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Degeneration of cerebellum	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Decreased size of tooth	Always
Depressed nasal bridge	Always
High forehead	Always
Increased size of gum ridge	Always
Nasal tip, upturned	Always
Short philtrum	Always
Downturned corners of mouth	Often (30–79%)
Eye folds	Often (30–79%)
Fullness around the eyes	Often (30–79%)
Tented mouth	Often (30–79%)
Wide mouth	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
High palate	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Flexed joint that cannot be straightened	Always
Spasticity and rigidity of muscles	Always
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Abnormal intervertebral disk morphology	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Faltering weight	Always
Growth delay	Always
Prenatal growth deficiency	Always
Short stature	Always
Small for gestational age	Always

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Optic atrophy	Often (30–79%)
Abnormally close eyes	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)
Inward turned thumb	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Underdeveloped ear cartilage	Very often (80–99%)
Large earlobe	Often (30–79%)
Large ears	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Very often (80–99%)
Nephrotic syndrome	Very often (80–99%)
Focal segmental glomerulosclerosis	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Often (30–79%)
Underactive thyroid	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Very often (80–99%)
Low albumin	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Stomach hernia	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	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 WDR4 and how often each is seen. Find out more at hpo.jax.org.

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