Traits

Traits linked to TP53RK

TP53 regulating kinase

The Human Phenotype Ontology links 47 traits to TP53RK, 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
Cognitive impairment	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Abnormality of neuronal migration	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
More grooves in brain	Often (30–79%)
Aqueductal stenosis	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Delayed speech and language development	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
Abnormal dentition	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Large face	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Prominent area between the eyebrows	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Always
Kidney damage	Very often (80–99%)
Congenital nephrotic syndrome	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Focal segmental glomerulosclerosis	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Abnormal intervertebral disk morphology	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Tapered finger	Not recorded

Abnormality of the ear

Trait	How often it is seen
Underdeveloped ear cartilage	Very often (80–99%)
Large ears	Often (30–79%)
Prominent ear	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Visual impairment	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Stomach hernia	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hyperpigmented skin patches	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	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 TP53RK and how often each is seen. Find out more at hpo.jax.org.

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