Trăsături

Trăsături asociate cu USP9X

ubiquitin specific peptidase 9 X-linked

Human Phenotype Ontology asociază 115 trăsături cu USP9X, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

USP9X

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Blockage of the rear opening of the nasal cavity	Des (30–79%)
Dandy-Walker malformation	Des (30–79%)
Abnormal dental position	Uneori (5–29%)
Abnormal dentition	Uneori (5–29%)
Abnormal periodontium morphology	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Deep laugh lines	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Flared nostrils	Uneori (5–29%)
Full lips	Uneori (5–29%)
Gum enlargement	Uneori (5–29%)
High palate	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Prominent nose	Uneori (5–29%)
Recurrent upper and lower respiratory tract infections	Uneori (5–29%)
Relatively large head	Uneori (5–29%)
Short opening between the eyelids	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide nasal base	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Bulbous nose	Neînregistrat
Smooth philtrum	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
IQ between 34 and 49	Foarte des (80–99%)
Abnormal cortical gyration	Des (30–79%)
Small cerebellum	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Cerebellar vermis hypoplasia	Uneori (5–29%)
Dilated fourth ventricle	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Obsessive compulsive behavior	Uneori (5–29%)
Small brainstem	Uneori (5–29%)
Delayed speech and language development	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad thumb	Des (30–79%)
Left and right leg differ in length or width	Des (30–79%)
Postaxial polydactyly	Des (30–79%)
Broad big toe	Uneori (5–29%)
Bunion	Uneori (5–29%)
Curved fingers	Uneori (5–29%)
Dislocated hip since birth	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Overlapping toe	Uneori (5–29%)
Partial knee cap dislocation	Uneori (5–29%)
Short foot	Uneori (5–29%)
Slender finger	Uneori (5–29%)
Small hand	Uneori (5–29%)
Tapered finger	Uneori (5–29%)
Hip dislocation	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Abnormal formation of the hip	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Double jointed thumb	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Limitation of joint mobility	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Thoracolumbar scoliosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Des (30–79%)
Astigmatism	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Abnormally close eyes	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent anus	Des (30–79%)
Abnormality of the abdominal wall	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Chronic constipation	Uneori (5–29%)
Cyst of the ductus choledochus	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Renal dysplasia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Depigmentation/hyperpigmentation of skin	Des (30–79%)
Curly hair	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Spinal dimple	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormal thyroid function	Des (30–79%)
Abnormal circulating thyroid hormone concentration	Uneori (5–29%)
Delayed puberty	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
1-minute APGAR score of 1	Uneori (5–29%)
5-minute APGAR score of 5	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
One underdeveloped breast	Uneori (5–29%)
Small nipples	Uneori (5–29%)

Abnormality of the respiratory system

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

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	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 USP9X și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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