Traits

Traits linked to GPC6

glypican 6

The Human Phenotype Ontology links 51 traits to GPC6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormal morphology of the radius	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Disproportionately short upper portion of limb	Very often (80–99%)
Elbow dislocation	Very often (80–99%)
Hypoplastic distal humeri	Very often (80–99%)
Abnormality of the thighbone	Often (30–79%)
Disproportionately short middle portion of limb	Often (30–79%)
Smaller or shorter than typical limbs	Often (30–79%)
Anterolateral radial head dislocation	Not recorded
Limited elbow extension	Not recorded
Limited elbow flexion	Not recorded
Limited elbow flexion/extension	Not recorded
Limited knee flexion	Not recorded
Limited knee flexion/extension	Not recorded
Limited knee straightening	Not recorded
Short calf bone	Not recorded
Short humerus	Not recorded
Short shinbone	Not recorded
Wide calf bone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Little lower jaw	Often (30–79%)
Deformity of the skull	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Eye folds	Not recorded
Flat face	Not recorded
Narrow eyelid opening	Not recorded
Narrow opening between the eyelids	Not recorded
Short neck	Not recorded
Wide nasal bridge	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded
Narrowing of lung artery	Not recorded
Strawberry mark	Not recorded

Abnormality of the integument

Trait	How often it is seen
Pterygium	Sometimes (5–29%)
Axillary pterygium	Not recorded
Popliteal pterygium	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Low-set ears	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hernia	Sometimes (5–29%)
Limited hip movement	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Disproportionate short-limb short stature	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	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 GPC6 and how often each is seen. Find out more at hpo.jax.org.

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