Traits

Traits linked to ASPH

aspartate beta-hydroxylase

The Human Phenotype Ontology links 34 traits to ASPH, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Ectopia lentis	Always
Partially dislocated lens	Always
Spherophakia	Always
Visual impairment	Always
Anterior synechiae of the anterior chamber	Very often (80–99%)
Clouding of the lens of the eye	Very often (80–99%)
Shallow anterior chamber	Very often (80–99%)
Decreased clarity of vision	Often (30–79%)
High eye pressure	Often (30–79%)
Iris degeneration	Often (30–79%)
Moderate myopia	Often (30–79%)
Severe near sightedness	Often (30–79%)
Trembling eye lens	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bad bite	Always
Beaked nose	Always
Downward slanting of the opening between the eyelids	Always
Prominent nasal bridge	Always
Prominent nose	Always
Receding chin	Always
Zygomatic flattening	Always
Long face	Very often (80–99%)
Facial asymmetry	Often (30–79%)
Spontaneous conjunctival filtering bleb	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Very often (80–99%)
Broad big toe	Often (30–79%)
Dropped arches	Often (30–79%)
Short finger	Often (30–79%)
Outward turned elbows	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Often (30–79%)
Funnel chest	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 ASPH and how often each is seen. Find out more at hpo.jax.org.

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