Traits

Traits linked to TSR2

TSR2 ribosome maturation factor

The Human Phenotype Ontology links 67 traits to TSR2, by body system: features seen in people with one of the gene's rare conditions.

TSR2

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Always
Downward slanting of the opening between the eyelids	Always
Little lower jaw	Always
Midface retrusion	Always
Sparse eyelashes	Always
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%)
Low frontal hairline	Rarely (1–4%)
Wide nasal bridge	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased mean corpuscular volume	Always
Persistence of hemoglobin F	Always
Elevated red cell adenosine deaminase activity	Very often (80–99%)
Pure red cell aplasia	Very often (80–99%)
Erythroid hypoplasia	Often (30–79%)
Macrocytic anemia	Often (30–79%)
Macrocytic dyserythropoietic anemia	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 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 genitourinary system

Trait	How often it is seen
Unilateral cryptorchidism	Often (30–79%)
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%)

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%)

Abnormality of the eye

Trait	How often it is seen
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 the ear

Trait	How often it is seen
Conductive deafness	Always
Small ears	Always
Absent ear canal	Often (30–79%)
Low-set ears	Rarely (1–4%)

Growth abnormality

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
High shoulder blade	Sometimes (5–29%)
Bone cell cancer	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Lethargy	Often (30–79%)
Neurodevelopmental delay	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Adenocarcinoma of the colon	Rarely (1–4%)

Abnormality of the integument

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

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 TSR2 and how often each is seen. Find out more at hpo.jax.org.

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