Trăsături

Trăsături asociate cu NFIX

nuclear factor I X

Human Phenotype Ontology asociază 196 trăsături cu NFIX, 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
Anterior position of the premaxilla	Întotdeauna
Big calvaria	Întotdeauna
High forehead	Întotdeauna
Abnormal facial shape	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Long face	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Prominent forehead	Foarte des (80–99%)
Receding chin	Foarte des (80–99%)
Big lower jaw	Des (30–79%)
Broad forehead	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Decreased size of tooth	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Drooling	Des (30–79%)
Drooping lower lip	Des (30–79%)
Early eruption of teeth	Des (30–79%)
Extra bones within cranial sutures	Des (30–79%)
Eye folds	Des (30–79%)
Frontal bossing	Des (30–79%)
Full lips	Des (30–79%)
Gum enlargement	Des (30–79%)
High palate	Des (30–79%)
Highly arched eyebrow	Des (30–79%)
Irregular teeth	Des (30–79%)
Little lower jaw	Des (30–79%)
Long, narrow head	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Narrow mouth	Des (30–79%)
Open mouth	Des (30–79%)
Outward turned lips	Des (30–79%)
Oval face	Des (30–79%)
Prominent back of the head	Des (30–79%)
Prominent nose	Des (30–79%)
Protruding tongue	Des (30–79%)
Recurrent colds	Des (30–79%)
Short nose	Des (30–79%)
Short philtrum	Des (30–79%)
Small retruded chin	Des (30–79%)
Triangular face	Des (30–79%)
Asymmetry of the posterior head	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Narrowing of the rear opening of the nasal cavity	Uneori (5–29%)
Pointed chin	Uneori (5–29%)
Scaphocephaly	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Underdeveloped tissue around nostril	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Decreased depth of eye sockets	Neînregistrat
Monobrow	Neînregistrat
Retraction of the tongue	Neînregistrat
Short mandibular rami	Neînregistrat
Thick eyebrow	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Anxiety	Întotdeauna
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
IQ between 34 and 49	Întotdeauna
Absent septum pellucidum	Des (30–79%)
Absent speech development	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Brisk reflexes	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Fewer and broader ridges in brain	Des (30–79%)
Motor delay	Des (30–79%)
Obstructive sleep apnea	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Cervical cord compression	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Intellectual disability, severe	Uneori (5–29%)
Irritability	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Migraine	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Small brainstem	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Agenesis of corpus callosum	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Advanced bone age	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Slender long bone	Foarte des (80–99%)
Abnormal formation of the hip	Des (30–79%)
Atlantoaxial dislocation	Des (30–79%)
Decreased hip abduction	Des (30–79%)
Funnel chest	Des (30–79%)
Hunched back	Des (30–79%)
Increased susceptibility to fractures	Des (30–79%)
Kyphoscoliosis	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Low muscle tone, in neonatal onset	Des (30–79%)
Low solidness and mass of the bones	Des (30–79%)
Scoliosis	Des (30–79%)
Thoracic kyphosis	Des (30–79%)
Thoracic scoliosis	Des (30–79%)
Osteoporosis	Uneori (5–29%)
Recurrent fractures	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Hypoplasia of the odontoid process	Neînregistrat
Large sternal ossification centers	Neînregistrat
Short sternum	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Întotdeauna
Blue outer white part of eyeball	Foarte des (80–99%)
Astigmatism	Des (30–79%)
Close sighted	Des (30–79%)
Cross-eyed	Des (30–79%)
Farsightedness	Des (30–79%)
Optic nerve hypoplasia	Des (30–79%)
Severe near sightedness	Des (30–79%)
Wide-set eyes	Des (30–79%)
Deeply set eye	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Horizontal nystagmus	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Optic disc hypoplasia	Uneori (5–29%)
Optic disc pallor	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bowing of the long bones	Foarte des (80–99%)
Bunion	Des (30–79%)
Coxa valga	Des (30–79%)
Coxa vara	Des (30–79%)
Curvature of little finger	Des (30–79%)
Long fingers	Des (30–79%)
Prominent fingertip pads	Des (30–79%)
Slender finger	Des (30–79%)
Curvature of digit	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Partial hip dislocation	Uneori (5–29%)
Bullet-shaped middle phalanges of the hand	Neînregistrat
Short outermost finger bone	Neînregistrat
Wide outermost end of long bone	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cutis marmorata	Des (30–79%)
Dysplastic aortic valve	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Extra heart beat	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
High blood pressure	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Acid reflux	Uneori (5–29%)
Anteriorly placed anus	Uneori (5–29%)
Constipation	Uneori (5–29%)
Episodic vomiting	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Omphalocele	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Bilateral conductive hearing impairment	Des (30–79%)
Cholesteatoma	Des (30–79%)
Conductive deafness	Des (30–79%)
Hearing impairment	Des (30–79%)
Low-set ears	Des (30–79%)
Overfolded ears	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Small ears	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Decreased body weight	Întotdeauna
General overgrowth	Întotdeauna
Faltering weight	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Growth delay	Des (30–79%)
Short stature	Des (30–79%)
Tall stature	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hair growth	Foarte des (80–99%)
Thin skin	Foarte des (80–99%)
Beauty mark	Des (30–79%)
Brittle hair	Des (30–79%)
Excessive hairiness over body	Des (30–79%)
Sparse hair	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Obstructive lung disease	Foarte des (80–99%)
Noisy breathing	Des (30–79%)
Softening of voice box tissue	Des (30–79%)
Apnea	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bilateral cryptorchidism	Des (30–79%)
Undescended testes	Des (30–79%)
Unilateral cryptorchidism	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Recurrent aspiration pneumonia	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bruising susceptibility	Des (30–79%)

Abnormality of the breast

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

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	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 NFIX și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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