Kjennetegn

Kjennetegn knyttet til ZFX

zinc finger protein X-linked

Human Phenotype Ontology knytter 193 kjennetegn til ZFX, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

ZFX

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Close sighted	Alltid
Involuntary, rapid, rhythmic eye movements	Alltid
Visual impairment	Alltid
Astigmatism	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Congenital nystagmus	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Farsightedness	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Optic nerve hypoplasia	Noen ganger (5–29 %)
Retinal detachment	Noen ganger (5–29 %)
Severe near sightedness	Noen ganger (5–29 %)
Superior oblique muscle weakness	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Double-Jointed	Alltid
Scoliosis	Alltid
Low muscle tone	Ofte (30–79 %)
Abnormal formation of the hip	Noen ganger (5–29 %)
Absence of some of the sacral and coccygeal bones	Noen ganger (5–29 %)
Delayed bone maturation	Noen ganger (5–29 %)
Displacement of one backbone compared to another	Noen ganger (5–29 %)
Flattened vertebrae	Noen ganger (5–29 %)
Funnel chest	Noen ganger (5–29 %)
Irregular vertebral endplates	Noen ganger (5–29 %)
Joint dislocation	Noen ganger (5–29 %)
Narrow spinal canal	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Pigeon chest	Noen ganger (5–29 %)
Spondylolysis	Noen ganger (5–29 %)
Thoracic scoliosis	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Bunion	Noen ganger (5–29 %)
Clubbing of fingers and toes	Noen ganger (5–29 %)
Curvature of digit	Noen ganger (5–29 %)
Deep palm line	Noen ganger (5–29 %)
Finger joint hyperextensibility	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Front half of foot turns inward	Noen ganger (5–29 %)
Large hands	Noen ganger (5–29 %)
Overlapping toe	Noen ganger (5–29 %)
Postaxial polydactyly	Noen ganger (5–29 %)
Short foot	Noen ganger (5–29 %)
Short toe	Noen ganger (5–29 %)
Single transverse palmar crease	Noen ganger (5–29 %)
Small toe	Noen ganger (5–29 %)
Tapered finger	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Alltid
Inguinal hernia	Ofte (30–79 %)
Umbilical hernia	Ofte (30–79 %)
Constipation	Noen ganger (5–29 %)
Delayed gastric emptying	Noen ganger (5–29 %)
Hepatocellular adenoma	Noen ganger (5–29 %)
Inflammation of the esophagus	Noen ganger (5–29 %)
Poor suck	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)
Pyloric stenosis	Noen ganger (5–29 %)
Rectum protrudes through anus	Noen ganger (5–29 %)
Vomiting	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Patent ductus arteriosus	Ofte (30–79 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Aortic valve has two leaflets rather than three	Noen ganger (5–29 %)
Bulge in wall of root of large artery that carries blood away from heart	Noen ganger (5–29 %)
Dilation of Virchow-Robin spaces	Noen ganger (5–29 %)
High blood pressure	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Mesocardia	Noen ganger (5–29 %)
Narrowing of aorta	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Sensorineural hearing impairment	Ofte (30–79 %)
Asymmetric ears	Noen ganger (5–29 %)
Conductive deafness	Noen ganger (5–29 %)
Cupped ear	Noen ganger (5–29 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Large earlobe	Noen ganger (5–29 %)
Low-set ears	Noen ganger (5–29 %)
Overfolded ears	Noen ganger (5–29 %)
Thickened helices	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Excessive hair growth	Alltid
Absence of part of skin at birth	Noen ganger (5–29 %)
Deep-set nails	Noen ganger (5–29 %)
Fair hair	Noen ganger (5–29 %)
Fine hair	Noen ganger (5–29 %)
Partial absent skin pigmentation	Noen ganger (5–29 %)
Slow-growing hair	Noen ganger (5–29 %)
Small nail	Noen ganger (5–29 %)
Thick hair	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Delayed puberty	Noen ganger (5–29 %)
Elevated blood parathyroid hormone level	Noen ganger (5–29 %)
Hypogonadotropic hypogonadism	Noen ganger (5–29 %)
Parathyroid adenoma	Noen ganger (5–29 %)
Small pituitary gland	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Hypospadias	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Horseshoe kidney	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Increased calcium level in kidney	Noen ganger (5–29 %)
Kidney stone	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Caesarean section	Ofte (30–79 %)
Premature birth	Ofte (30–79 %)
High levels of amniotic fluid	Noen ganger (5–29 %)
Low levels of amniotic fluid	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Bleeding in brain	Noen ganger (5–29 %)
Subarachnoid hemorrhage	Noen ganger (5–29 %)
Subdural hemorrhage	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Chronic pain	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Birth weight > 90th percentile	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
High blood calcium levels	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til ZFX og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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