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	Cât de frecvent apare
Abnormal morphology of the radius	Foarte des (80–99%)
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Disproportionately short upper portion of limb	Foarte des (80–99%)
Elbow dislocation	Foarte des (80–99%)
Hypoplastic distal humeri	Foarte des (80–99%)
Abnormality of the thighbone	Des (30–79%)
Disproportionately short middle portion of limb	Des (30–79%)
Smaller or shorter than typical limbs	Des (30–79%)
Anterolateral radial head dislocation	Neînregistrat
Limited elbow extension	Neînregistrat
Limited elbow flexion	Neînregistrat
Limited elbow flexion/extension	Neînregistrat
Limited knee flexion	Neînregistrat
Limited knee flexion/extension	Neînregistrat
Limited knee straightening	Neînregistrat
Short calf bone	Neînregistrat
Short humerus	Neînregistrat
Short shinbone	Neînregistrat
Wide calf bone	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Depressed nasal bridge	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Little lower jaw	Des (30–79%)
Deformity of the skull	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Short nose	Uneori (5–29%)
Eye folds	Neînregistrat
Flat face	Neînregistrat
Narrow eyelid opening	Neînregistrat
Narrow opening between the eyelids	Neînregistrat
Short neck	Neînregistrat
Wide nasal bridge	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat
Narrowing of lung artery	Neînregistrat
Strawberry mark	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Pterygium	Uneori (5–29%)
Axillary pterygium	Neînregistrat
Popliteal pterygium	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Hernia	Uneori (5–29%)
Limited hip movement	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Disproportionate short-limb short stature	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Umbilical hernia	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Undescended testes	Des (30–79%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Intellectual disability	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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