Traits

Traits linked to RPS19

ribosomal protein S19

The Human Phenotype Ontology links 88 traits to RPS19, by body system: features seen in people with one of the gene's rare conditions.

RPS19

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%)
Eye folds	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%)
Little lower jaw	Rarely (1–4%)
Low frontal hairline	Rarely (1–4%)
Wide nasal bridge	Rarely (1–4%)
Cleft palate	Not recorded
Cleft upper lip	Not recorded
Delayed cranial suture closure	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Flat nose	Not recorded
Holes in parietal bones	Not recorded
Receding chin	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated red cell adenosine deaminase activity	Very often (80–99%)
Increased mean corpuscular volume	Very often (80–99%)
Macrocytic anemia	Very often (80–99%)
Pure red cell aplasia	Very often (80–99%)
Erythroid hypoplasia	Often (30–79%)
Increased number of platelets in blood	Often (30–79%)
Low platelet count	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%)
Low blood neutrophil count	Rarely (1–4%)
Congenital hypoplastic anemia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Small thenar eminence	Often (30–79%)
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%)
Underdeveloped outer large forearm bone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
High shoulder blade	Sometimes (5–29%)
Bone cell cancer	Rarely (1–4%)
11 pairs of ribs	Not recorded
Bifid thoracic vertebrae	Not recorded
Hypoplastic coccygeal vertebrae	Not recorded
Hypoplastic sacral vertebrae	Not recorded
Narrow chest	Not recorded
Small wings of the pelvic girdle	Not recorded

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%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Radial artery aplasia	Sometimes (5–29%)
Narrowing of aorta	Rarely (1–4%)
Tricuspid stenosis	Rarely (1–4%)
Cardiac failure	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	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%)
Primary congenital glaucoma	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%)
Malignant genitourinary tract tumor	Rarely (1–4%)
Small kidneys	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Lethargy	Often (30–79%)
Global developmental delay	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Intellectual disability	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Short stature	Often (30–79%)
Small for gestational age	Often (30–79%)
Faltering weight	Not recorded
Prenatal growth deficiency	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Colon cancer	Sometimes (5–29%)
Adenocarcinoma of the colon	Rarely (1–4%)

Abnormality of the ear

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

Abnormality of the integument

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

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Not recorded

Laboratory abnormality

Trait	How often it is seen
Nonimmune hydrops fetalis	Rarely (1–4%)

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 RPS19 and how often each is seen. Find out more at hpo.jax.org.

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