Trăsături

Trăsături asociate cu DDX3X

DEAD-box helicase 3 X-linked

Human Phenotype Ontology asociază 75 trăsături cu DDX3X, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

DDX3X

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Corners of eye widely separated	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Short opening between the eyelids	Foarte des (80–99%)
Abnormality of the palate	Des (30–79%)
Abnormally small head	Des (30–79%)
Broad head shape	Des (30–79%)
Cleft palate	Des (30–79%)
Full cheeks	Des (30–79%)
Short neck	Des (30–79%)
Wider-than-typical soft spot of skull	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
High palate	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Dandy-Walker malformation	Rar (1–4%)
Bulbous nose	Neînregistrat
Long face	Neînregistrat
Nasal tip, upturned	Neînregistrat
Wide nasal bridge	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Abnormal corpus callosum morphology	Foarte des (80–99%)
Agenesis of corpus callosum	Des (30–79%)
Aggressive behavior	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Disorder of involuntary muscle movements	Des (30–79%)
More active than typical	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Wide based walk	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Cortical dysplasia	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Partial agenesis of the corpus callosum	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Disease of the heart muscle	Uneori (5–29%)
Dysplastic pulmonary valve	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Narrowing of aorta	Rar (1–4%)
Tetralogy of Fallot	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Low-set ears	Uneori (5–29%)
Thickened helices	Uneori (5–29%)
Absent ear	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of vision	Des (30–79%)
Cross-eyed	Des (30–79%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Decreased body weight	Des (30–79%)
Short stature	Des (30–79%)
Growth delay as children	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Anteriorly placed anus	Des (30–79%)
Enlarged colon lacking nerve cells	Des (30–79%)
Feeding difficulties in infancy	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of digit	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the larynx	Uneori (5–29%)
Neonatal respiratory distress	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)

Abnormality of the genitourinary system

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

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	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 DDX3X și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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