Trăsături

Trăsături asociate cu WDR26

WD repeat domain 26

Human Phenotype Ontology asociază 91 trăsături cu WDR26, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Full lower lip	Întotdeauna
Big maxilla	Foarte des (80–99%)
Coarse facial features	Foarte des (80–99%)
Drooping upper lip	Foarte des (80–99%)
Full cheeks	Foarte des (80–99%)
Full upper lip	Foarte des (80–99%)
Widely spaced teeth	Foarte des (80–99%)
Abnormality of the gums	Des (30–79%)
Absent cupid's bow	Des (30–79%)
Broad nasal tip	Des (30–79%)
Delayed loss of baby teeth	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Full lips	Des (30–79%)
Limited hair on end of eyebrow	Des (30–79%)
Little lower jaw	Des (30–79%)
Narrow forehead	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Prominent nasal tip	Des (30–79%)
Short nasal bridge	Des (30–79%)
Short philtrum	Des (30–79%)
Wide mouth	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Collapsed nostrils	Uneori (5–29%)
Gum enlargement	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Prominent brow	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Delayed speech and language development	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Happy demeanor	Foarte des (80–99%)
Brain imaging abnormality	Des (30–79%)
Brief seizures with staring spells	Des (30–79%)
Delayed ability to sit	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Des (30–79%)
Grand mal seizures	Des (30–79%)
Mild global developmental delay	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Abducens palsy	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Cerebral hypomyelination	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Inability to coordinate movements when walking	Uneori (5–29%)
Repetitive compulsive behavior	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Stereotypical body rocking	Uneori (5–29%)
Thin corpus callosum	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Wide based walk	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Farsightedness	Des (30–79%)
Increased front to back length of eyeball	Des (30–79%)
Increased size of eyes	Des (30–79%)
Wide-set eyes	Des (30–79%)
Bulging eye	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Marcus Gunn jaw winking synkinesis	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Des (30–79%)
Attachment of thumb close to wrist	Uneori (5–29%)
Front half of foot turns inward	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Osteopathia striata	Uneori (5–29%)
Short foot	Uneori (5–29%)
Small hand	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Abnormally shaped skeletal	Uneori (5–29%)
Lower-limb joint contracture	Uneori (5–29%)
Spastic walk	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Right aortic arch	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Recurrent middle ear infection	Des (30–79%)
Abnormal Eustachian tube morphology	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Pineal cyst	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Floppy windpipe	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu WDR26 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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