Traits

Traits linked to PHLDB1

pleckstrin homology like domain family B member 1

The Human Phenotype Ontology links 15 traits to PHLDB1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Knock knees	Always
Shallow acetabular fossae	Always
Wide head of thigh bone	Often (30–79%)
Hip dislocation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Always
Osteopenia	Always
Severe platyspondyly	Always
Recurrent fractures	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Truncal obesity	Always
Short stature	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Wry neck	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Body fails to respond to insulin	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 PHLDB1 and how often each is seen. Find out more at hpo.jax.org.

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