특성

ZFX 연관 특성

zinc finger protein X-linked

인간 표현형 온톨로지가 ZFX에 연결하는 특성은 193개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the eye

특성	나타나는 빈도
Close sighted	항상
Involuntary, rapid, rhythmic eye movements	항상
Visual impairment	항상
Astigmatism	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Congenital nystagmus	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Farsightedness	가끔 (5–29%)
Glaucoma	가끔 (5–29%)
Lazy eye	가끔 (5–29%)
Optic atrophy	가끔 (5–29%)
Optic nerve hypoplasia	가끔 (5–29%)
Retinal detachment	가끔 (5–29%)
Severe near sightedness	가끔 (5–29%)
Superior oblique muscle weakness	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Double-Jointed	항상
Scoliosis	항상
Low muscle tone	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Absence of some of the sacral and coccygeal bones	가끔 (5–29%)
Delayed bone maturation	가끔 (5–29%)
Displacement of one backbone compared to another	가끔 (5–29%)
Flattened vertebrae	가끔 (5–29%)
Funnel chest	가끔 (5–29%)
Irregular vertebral endplates	가끔 (5–29%)
Joint dislocation	가끔 (5–29%)
Narrow spinal canal	가끔 (5–29%)
Osteopenia	가끔 (5–29%)
Pigeon chest	가끔 (5–29%)
Spondylolysis	가끔 (5–29%)
Thoracic scoliosis	가끔 (5–29%)

Abnormality of limbs

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

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	항상
Inguinal hernia	자주 (30–79%)
Umbilical hernia	자주 (30–79%)
Constipation	가끔 (5–29%)
Delayed gastric emptying	가끔 (5–29%)
Hepatocellular adenoma	가끔 (5–29%)
Inflammation of the esophagus	가끔 (5–29%)
Poor suck	가끔 (5–29%)
Poor swallowing	가끔 (5–29%)
Pyloric stenosis	가끔 (5–29%)
Rectum protrudes through anus	가끔 (5–29%)
Vomiting	가끔 (5–29%)

Abnormality of the cardiovascular system

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

Abnormality of the ear

특성	나타나는 빈도
Sensorineural hearing impairment	자주 (30–79%)
Asymmetric ears	가끔 (5–29%)
Conductive deafness	가끔 (5–29%)
Cupped ear	가끔 (5–29%)
Ears rotated toward back of head	가끔 (5–29%)
Large earlobe	가끔 (5–29%)
Low-set ears	가끔 (5–29%)
Overfolded ears	가끔 (5–29%)
Thickened helices	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Excessive hair growth	항상
Absence of part of skin at birth	가끔 (5–29%)
Deep-set nails	가끔 (5–29%)
Fair hair	가끔 (5–29%)
Fine hair	가끔 (5–29%)
Partial absent skin pigmentation	가끔 (5–29%)
Slow-growing hair	가끔 (5–29%)
Small nail	가끔 (5–29%)
Thick hair	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Delayed puberty	가끔 (5–29%)
Elevated blood parathyroid hormone level	가끔 (5–29%)
Hypogonadotropic hypogonadism	가끔 (5–29%)
Parathyroid adenoma	가끔 (5–29%)
Small pituitary gland	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Hypospadias	자주 (30–79%)
Undescended testes	자주 (30–79%)
Horseshoe kidney	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Increased calcium level in kidney	가끔 (5–29%)
Kidney stone	가끔 (5–29%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
Caesarean section	자주 (30–79%)
Premature birth	자주 (30–79%)
High levels of amniotic fluid	가끔 (5–29%)
Low levels of amniotic fluid	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Bleeding in brain	가끔 (5–29%)
Subarachnoid hemorrhage	가끔 (5–29%)
Subdural hemorrhage	가끔 (5–29%)

Constitutional symptom

특성	나타나는 빈도
Chronic pain	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Birth weight > 90th percentile	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
High blood calcium levels	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: ZFX에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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