Traits

Traits linked to NFIX

nuclear factor I X

The Human Phenotype Ontology links 196 traits to NFIX, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Advanced bone age	매우 자주 (80–99%)
Double-Jointed	매우 자주 (80–99%)
Low muscle tone	매우 자주 (80–99%)
Slender long bone	매우 자주 (80–99%)
Abnormal formation of the hip	자주 (30–79%)
Atlantoaxial dislocation	자주 (30–79%)
Decreased hip abduction	자주 (30–79%)
Funnel chest	자주 (30–79%)
Hunched back	자주 (30–79%)
Increased susceptibility to fractures	자주 (30–79%)
Kyphoscoliosis	자주 (30–79%)
Low muscle tone in trunk	자주 (30–79%)
Low muscle tone, in neonatal onset	자주 (30–79%)
Low solidness and mass of the bones	자주 (30–79%)
Scoliosis	자주 (30–79%)
Thoracic kyphosis	자주 (30–79%)
Thoracic scoliosis	자주 (30–79%)
Osteoporosis	가끔 (5–29%)
Recurrent fractures	가끔 (5–29%)
Spasticity and rigidity of muscles	가끔 (5–29%)
Hypoplasia of the odontoid process	기록되지 않음
Large sternal ossification centers	기록되지 않음
Short sternum	기록되지 않음

Abnormality of the eye

Trait	나타나는 빈도
Bulging eye	항상
Blue outer white part of eyeball	매우 자주 (80–99%)
Astigmatism	자주 (30–79%)
Close sighted	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Farsightedness	자주 (30–79%)
Optic nerve hypoplasia	자주 (30–79%)
Severe near sightedness	자주 (30–79%)
Wide-set eyes	자주 (30–79%)
Deeply set eye	가끔 (5–29%)
Glaucoma	가끔 (5–29%)
Horizontal nystagmus	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Lazy eye	가끔 (5–29%)
Optic atrophy	가끔 (5–29%)
Optic disc hypoplasia	가끔 (5–29%)
Optic disc pallor	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Bowing of the long bones	매우 자주 (80–99%)
Bunion	자주 (30–79%)
Coxa valga	자주 (30–79%)
Coxa vara	자주 (30–79%)
Curvature of little finger	자주 (30–79%)
Long fingers	자주 (30–79%)
Prominent fingertip pads	자주 (30–79%)
Slender finger	자주 (30–79%)
Curvature of digit	가끔 (5–29%)
High-arched foot	가끔 (5–29%)
Hip dislocation	가끔 (5–29%)
Partial hip dislocation	가끔 (5–29%)
Bullet-shaped middle phalanges of the hand	기록되지 않음
Short outermost finger bone	기록되지 않음
Wide outermost end of long bone	기록되지 않음

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Cutis marmorata	자주 (30–79%)
Dysplastic aortic valve	자주 (30–79%)
Abnormal cardiovascular system morphology	가끔 (5–29%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Extra heart beat	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Increased blood pressure in blood vessels of lungs	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
High blood pressure	기록되지 않음

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties	자주 (30–79%)
Feeding difficulties in infancy	자주 (30–79%)
Acid reflux	가끔 (5–29%)
Anteriorly placed anus	가끔 (5–29%)
Constipation	가끔 (5–29%)
Episodic vomiting	가끔 (5–29%)
Pyloric stenosis	가끔 (5–29%)
Umbilical hernia	가끔 (5–29%)
Omphalocele	기록되지 않음

Abnormality of the ear

Trait	나타나는 빈도
Bilateral conductive hearing impairment	자주 (30–79%)
Cholesteatoma	자주 (30–79%)
Conductive deafness	자주 (30–79%)
Hearing impairment	자주 (30–79%)
Low-set ears	자주 (30–79%)
Overfolded ears	자주 (30–79%)
Ears rotated toward back of head	가끔 (5–29%)
Small ears	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Decreased body weight	항상
General overgrowth	항상
Faltering weight	매우 자주 (80–99%)
Prenatal growth deficiency	매우 자주 (80–99%)
Growth delay	자주 (30–79%)
Short stature	자주 (30–79%)
Tall stature	자주 (30–79%)

Abnormality of the integument

Trait	나타나는 빈도
Excessive hair growth	매우 자주 (80–99%)
Thin skin	매우 자주 (80–99%)
Beauty mark	자주 (30–79%)
Brittle hair	자주 (30–79%)
Excessive hairiness over body	자주 (30–79%)
Sparse hair	자주 (30–79%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Obstructive lung disease	매우 자주 (80–99%)
Noisy breathing	자주 (30–79%)
Softening of voice box tissue	자주 (30–79%)
Apnea	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Bilateral cryptorchidism	자주 (30–79%)
Undescended testes	자주 (30–79%)
Unilateral cryptorchidism	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Aspiration pneumonia	자주 (30–79%)
Recurrent aspiration pneumonia	자주 (30–79%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bruising susceptibility	자주 (30–79%)

Abnormality of the breast

Trait	나타나는 빈도
Inverted nipples	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Early onset of puberty	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NFIX and how often each is seen. Find out more at hpo.jax.org.

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