Traits

Traits linked to HPS6

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

The Human Phenotype Ontology links 33 traits to HPS6, 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
Decreased clarity of vision	Always
Extreme sensitivity of the eyes to light	Always
Lazy eye	Always
Horizontal nystagmus	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Iris transillumination defect	Often (30–79%)
Absent foveal reflex	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Rotary nystagmus	Sometimes (5–29%)
Absent pigmentation in the eye	Not recorded
Macular hypoplasia	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Ecchymosis	Always
Impaired ADP-induced platelet aggregation	Always
Impaired arachidonic acid-induced platelet aggregation	Always
Impaired collagen-induced platelet aggregation	Always
Prolonged bleeding time	Always
Absent platelet dense granules	Often (30–79%)
Bloody nose	Often (30–79%)
Bruising susceptibility	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Endometriosis	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Lack of bladder control due to nervous system injury	Sometimes (5–29%)
Loss of bladder control	Sometimes (5–29%)
Perineal fistula	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Albinism	Always
Patchy lightened skin	Often (30–79%)
Partial absent skin pigmentation	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Sometimes (5–29%)
Loss of bowel control	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent colds	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	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 HPS6 and how often each is seen. Find out more at hpo.jax.org.

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