Traits

Traits linked to GPKOW

G-patch domain and KOW motifs

The Human Phenotype Ontology links 24 traits to GPKOW, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Holoprosencephaly	Foarte des (80–99%)
Abnormal diencephalon morphology	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Hydranencephaly	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Foarte des (80–99%)
Short neck	Des (30–79%)
Sloping forehead	Des (30–79%)
Little lower jaw	Uneori (5–29%)
Narrow opening between the eyelids	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Limitation of joint mobility	Foarte des (80–99%)
Multiple joint contractures	Foarte des (80–99%)
Wide rib cage	Des (30–79%)

Abnormality of limbs

Trait	Cât de frecvent apare
Permanent flexion of the finger	Des (30–79%)
Inward turned thumb	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Absent/small lungs	Foarte des (80–99%)
Abnormal pleura morphology	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Foarte des (80–99%)

Abnormality of the ear

Trait	Cât de frecvent apare
Low-set ears	Des (30–79%)

Abnormality of the eye

Trait	Cât de frecvent apare
Deeply set eye	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Absent/small kidney	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Abnormal fingerprints	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Prenatal growth deficiency	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 GPKOW and how often each is seen. Find out more at hpo.jax.org.

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