Trăsături

Trăsături asociate cu WAC

WW domain containing adaptor with coiled-coil

Human Phenotype Ontology asociază 102 trăsături cu WAC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

WAC

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Full cheeks	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Square face	Des (30–79%)
Abnormality of the nostrils	Uneori (5–29%)
Absent cupid's bow	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Branchial anomaly	Uneori (5–29%)
Broad chin	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Broad nasal tip	Uneori (5–29%)
Broad opening between the eyelids	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Short nose	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Broad head shape	Neînregistrat
Coarse facial features	Neînregistrat
Downturned corners of mouth	Neînregistrat
Midface retrusion	Neînregistrat
Short neck	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Abnormal shape of brain	Foarte des (80–99%)
Attention deficit	Foarte des (80–99%)
Behavioral abnormality	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Anxiety	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Epilepsy	Des (30–79%)
Absent speech development	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Borderline personality disorder	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Simple febrile seizure	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Typical absence seizure	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Widened subarachnoid space	Uneori (5–29%)
Agitation	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Visual impairment	Foarte des (80–99%)
Abnormality of vision	Des (30–79%)
Astigmatism	Des (30–79%)
Cross-eyed	Des (30–79%)
Abnormality of refraction	Uneori (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Foarte des (80–99%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Ventricular hypertrophy	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Prominent fingertip pads	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Short palm	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Foarte des (80–99%)
Feeding difficulties	Des (30–79%)
Acid reflux	Uneori (5–29%)
Celiac disease	Uneori (5–29%)
Nasogastric tube feeding	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Prominent antihelix	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Abnormally shaped ears	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Dilatation of renal calices	Uneori (5–29%)
Pelvic kidney	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone, in neonatal onset	Des (30–79%)
Generalized decreased muscle tone	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Des (30–79%)
Abnormal pattern of respiration	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Uneori (5–29%)
Truncal obesity	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Inverted nipples	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	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

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

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