Traits

Traits linked to RPS20

ribosomal protein S20

The Human Phenotype Ontology links 112 traits to RPS20, 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
Glioblastoma multiforme	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Depression	Often (30–79%)
Epilepsy	Often (30–79%)
Irritability	Often (30–79%)
Lethargy	Often (30–79%)
Migraine	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal pyramidal sign	Sometimes (5–29%)
Abnormal speech pattern	Sometimes (5–29%)
Benign neoplasm of the central nervous system	Sometimes (5–29%)
Cancer of early nerve cells	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Disturbed sensory perception	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated red cell adenosine deaminase activity	Very often (80–99%)
Pure red cell aplasia	Very often (80–99%)
Erythroid hypoplasia	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Increased mean corpuscular volume	Often (30–79%)
Macrocytic dyserythropoietic anemia	Often (30–79%)
Persistence of hemoglobin F	Often (30–79%)
Reticulocytopenia	Often (30–79%)
Decreased blood leukocyte number	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Normochromic anemia	Sometimes (5–29%)
Acute myeloid leukemia	Rarely (1–4%)
Increased number of platelets in blood	Rarely (1–4%)
Low blood neutrophil count	Rarely (1–4%)
Low platelet count	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the head	Often (30–79%)
Cleft lip	Sometimes (5–29%)
Cleft soft palate	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Abnormally small head	Rarely (1–4%)
Depressed nasal bridge	Rarely (1–4%)
Eye folds	Rarely (1–4%)
Little lower jaw	Rarely (1–4%)
Low frontal hairline	Rarely (1–4%)
Wide nasal bridge	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Malabsorption	Very often (80–99%)
Nausea and vomiting	Often (30–79%)
Rectal tumor	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Colon tumor	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Pancreatic adenocarcinoma	Sometimes (5–29%)
Adenocarcinoma of the colon	Rarely (1–4%)
Stomach cancer	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the genitourinary system	Sometimes (5–29%)
Absent kidney	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Urinary tract neoplasm	Sometimes (5–29%)
Malignant genitourinary tract tumor	Rarely (1–4%)
Uterine cancer	Rarely (1–4%)
Kidney cancer	Not recorded
Ovarian cancer	Not recorded

Abnormality of the eye

Trait	How often it is seen
Amaurosis fugax	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Rarely (1–4%)
Cross-eyed	Rarely (1–4%)
Developmental glaucoma	Rarely (1–4%)
Drooping upper eyelid	Rarely (1–4%)
Wide-set eyes	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the thenar eminence	Sometimes (5–29%)
Abnormality of the upper limb	Sometimes (5–29%)
Absent thumb	Sometimes (5–29%)
Finger-like thumb	Sometimes (5–29%)
Partial duplication of the thumb bones	Sometimes (5–29%)
Short thumb	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Cardiac diverticulum	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Radial artery aplasia	Sometimes (5–29%)
Narrowing of aorta	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
High shoulder blade	Sometimes (5–29%)
Skeletal tumor	Sometimes (5–29%)
Bone cell cancer	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)
Growth delay	Often (30–79%)
Small for gestational age	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Rarely (1–4%)
Small ears	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Neoplasm of the thyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Often (30–79%)
Basal cell carcinoma	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormality of creatine metabolism	Sometimes (5–29%)
Nonimmune hydrops fetalis	Rarely (1–4%)

Abnormality of the breast

Trait	How often it is seen
Breast tumor	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	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 RPS20 and how often each is seen. Find out more at hpo.jax.org.

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