Trăsături

Trăsături asociate cu ZFX

zinc finger protein X-linked

Human Phenotype Ontology asociază 193 trăsături cu ZFX, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ZFX

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Abnormally large tongue	Des (30–79%)
Broad eyebrow	Des (30–79%)
Eye folds	Des (30–79%)
Long philtrum	Des (30–79%)
Monobrow	Des (30–79%)
Pointed chin	Des (30–79%)
Smooth philtrum	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Big lower jaw	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Broad nasal tip	Uneori (5–29%)
Broad neck	Uneori (5–29%)
Broad nostril	Uneori (5–29%)
Broad opening between the eyelids	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Decreased size of tooth	Uneori (5–29%)
Delayed closure of the soft spot on the skull	Uneori (5–29%)
Delayed eruption of teeth	Uneori (5–29%)
Delayed loss of baby teeth	Uneori (5–29%)
Dental crowding	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Dry eye syndrome	Uneori (5–29%)
Everted eyelid	Uneori (5–29%)
Extra teeth	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Fullness around the eyes	Uneori (5–29%)
High frontal hairline	Uneori (5–29%)
High palate	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long face	Uneori (5–29%)
Long nose	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Low hairline at back of neck	Uneori (5–29%)
Low hanging columella	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Narrow opening between the eyelids	Uneori (5–29%)
Narrow palate	Uneori (5–29%)
Pierre-Robin sequence	Uneori (5–29%)
Prominent eyelashes	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Protruding tongue	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Relatively large head	Uneori (5–29%)
Skin tag in front of the ear	Uneori (5–29%)
Tall shaped head	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Wider-than-typical soft spot of skull	Uneori (5–29%)
Zygomatic flattening	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Întotdeauna
Intellectual disability	Întotdeauna
Delayed ability to walk	Foarte des (80–99%)
Delayed fine motor development	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Autism	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
Agitation	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Boiling mad	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Choroid plexus cyst	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Depression	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Increased appetite	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Low frustration tolerance	Uneori (5–29%)
Obstructive sleep apnea	Uneori (5–29%)
Periventricular leukomalacia	Uneori (5–29%)
Snoring	Uneori (5–29%)
Teeth grinding	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Close sighted	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Visual impairment	Întotdeauna
Astigmatism	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Congenital nystagmus	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Optic nerve hypoplasia	Uneori (5–29%)
Retinal detachment	Uneori (5–29%)
Severe near sightedness	Uneori (5–29%)
Superior oblique muscle weakness	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Întotdeauna
Scoliosis	Întotdeauna
Low muscle tone	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Absence of some of the sacral and coccygeal bones	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Displacement of one backbone compared to another	Uneori (5–29%)
Flattened vertebrae	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Irregular vertebral endplates	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Narrow spinal canal	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Spondylolysis	Uneori (5–29%)
Thoracic scoliosis	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bunion	Uneori (5–29%)
Clubbing of fingers and toes	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Deep palm line	Uneori (5–29%)
Finger joint hyperextensibility	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Front half of foot turns inward	Uneori (5–29%)
Large hands	Uneori (5–29%)
Overlapping toe	Uneori (5–29%)
Postaxial polydactyly	Uneori (5–29%)
Short foot	Uneori (5–29%)
Short toe	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Small toe	Uneori (5–29%)
Tapered finger	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Inguinal hernia	Des (30–79%)
Umbilical hernia	Des (30–79%)
Constipation	Uneori (5–29%)
Delayed gastric emptying	Uneori (5–29%)
Hepatocellular adenoma	Uneori (5–29%)
Inflammation of the esophagus	Uneori (5–29%)
Poor suck	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Rectum protrudes through anus	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Patent ductus arteriosus	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Dilation of Virchow-Robin spaces	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Mesocardia	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)
Asymmetric ears	Uneori (5–29%)
Conductive deafness	Uneori (5–29%)
Cupped ear	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Large earlobe	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)
Thickened helices	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hair growth	Întotdeauna
Absence of part of skin at birth	Uneori (5–29%)
Deep-set nails	Uneori (5–29%)
Fair hair	Uneori (5–29%)
Fine hair	Uneori (5–29%)
Partial absent skin pigmentation	Uneori (5–29%)
Slow-growing hair	Uneori (5–29%)
Small nail	Uneori (5–29%)
Thick hair	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Uneori (5–29%)
Elevated blood parathyroid hormone level	Uneori (5–29%)
Hypogonadotropic hypogonadism	Uneori (5–29%)
Parathyroid adenoma	Uneori (5–29%)
Small pituitary gland	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Des (30–79%)
Undescended testes	Des (30–79%)
Horseshoe kidney	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Increased calcium level in kidney	Uneori (5–29%)
Kidney stone	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Caesarean section	Des (30–79%)
Premature birth	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)
Subdural hemorrhage	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chronic pain	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Birth weight > 90th percentile	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood calcium levels	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 ZFX și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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