Traits

Traits linked to SBDS

SBDS ribosome maturation factor

The Human Phenotype Ontology links 94 traits to SBDS, by body system: features seen in people with one of the gene's rare conditions.

SBDS

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Aplastic anemia	Always
Low number of red blood cells or hemoglobin	Always
Abnormality of blood and blood-forming tissues	Very often (80–99%)
Bone marrow failure	Very often (80–99%)
Low blood neutrophil count	Very often (80–99%)
Impaired neutrophil chemotaxis	Often (30–79%)
Increased mean corpuscular volume	Often (30–79%)
Low blood cell count	Often (30–79%)
Low platelet count	Often (30–79%)
Macrocytic anemia	Often (30–79%)
Myelodysplasia	Often (30–79%)
Normocytic anemia	Often (30–79%)
Persistently decreased total neutrophil count	Often (30–79%)
Reticulocytopenia	Often (30–79%)
Transiently decreased total neutrophil count	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Bleeding gums	Sometimes (5–29%)
Blood cancer	Sometimes (5–29%)
Bloody nose	Sometimes (5–29%)
Decreased blood leukocyte number	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)
Retinal bleeding	Sometimes (5–29%)
Persistence of hemoglobin F	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Anterior rib cupping	Always
Abnormality of the skeletal system	Very often (80–99%)
Delayed bone maturation	Often (30–79%)
Abnormal shape of joints	Sometimes (5–29%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Deformed rib cage	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Enlargement of the costochondral junction	Not recorded
Irregular ossification at anterior rib ends	Not recorded
Narrow chest	Not recorded
Narrow greater sciatic notch	Not recorded
Ovoid vertebral bodies	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Sometimes (5–29%)
Recurrent bacterial infections	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Recurrent viral infections	Sometimes (5–29%)
Skin rash	Sometimes (5–29%)
Bone infection	Rarely (1–4%)
Decreased immune function	Rarely (1–4%)
Eczema	Rarely (1–4%)
Infection in blood stream	Rarely (1–4%)
Autoimmune antibody positivity	Not recorded

Abnormality of limbs

Trait	How often it is seen
Proximal femoral metaphyseal irregularity	Always
Broad wide portion of long bone	Sometimes (5–29%)
Irregular wide portion of a long bone	Sometimes (5–29%)
Metaphyseal chondrodysplasia	Sometimes (5–29%)
Abnormalities of the fingers	Rarely (1–4%)
Slipped end part of innermost thighbone	Rarely (1–4%)
Coxa vara	Not recorded
Increased bone density in wide portion of long bone	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased circulating vitamin K concentration	Often (30–79%)
Deficient in vitamin D	Often (30–79%)
Hypoamylasemia	Often (30–79%)
Increased serum bile acid concentration	Often (30–79%)
Vitamin A deficiency	Often (30–79%)
Vitamin E deficiency	Often (30–79%)
Diabetes mellitus	Rarely (1–4%)
High liver enzymes	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Very often (80–99%)
Fat malabsorption	Very often (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Fat in feces	Often (30–79%)
Malnutrition	Often (30–79%)
Underdeveloped pancreas	Often (30–79%)
Enlarged liver	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Behavioral abnormality	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Global developmental delay	Not recorded
Intellectual disability, mild	Not recorded
Specific learning disability	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Dental cavities	Sometimes (5–29%)
Sinus disease	Sometimes (5–29%)
Delayed eruption of teeth	Rarely (1–4%)
Mouth sore	Rarely (1–4%)

Growth abnormality

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
Myocardial necrosis	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormality of the outer ear	Rarely (1–4%)
Hearing impairment	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Rarely (1–4%)
Hypopituitarism	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded
Neonatal respiratory distress	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Not recorded

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Rarely (1–4%)

Abnormality of the thoracic cavity

Trait	How often it is seen
Abnormality of the thoracic cavity	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 SBDS and how often each is seen. Find out more at hpo.jax.org.

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