Traits

Traits linked to BUD13

BUD13 spliceosome associated protein

The Human Phenotype Ontology links 25 traits to BUD13, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Always
Midface retrusion	Always
Triangular face	Always
Abnormally small head	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Always
Deeply set eye	Always
Breakdown of light-sensitive cells in back of eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Thickened aortic valve cusp	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized lipodystrophy	Always
Joint contracture	Often (30–79%)
Low muscle tone	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Achalasia	Always
Feeding difficulties	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	Always
Excessive wrinkled skin	Always

Abnormality of the nervous system

Trait	How often it is seen
Demyelinating sensory neuropathy	Often (30–79%)
Intellectual disability	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Short finger bones	Always

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Laboratory abnormality

Trait	How often it is seen
Elevated serum cholesterol	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 BUD13 and how often each is seen. Find out more at hpo.jax.org.

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