Kenmerken

Kenmerken gekoppeld aan NFIX

nuclear factor I X

De Human Phenotype Ontology koppelt 196 kenmerken aan NFIX, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Advanced bone age	Heel vaak (80–99%)
Double-Jointed	Heel vaak (80–99%)
Low muscle tone	Heel vaak (80–99%)
Slender long bone	Heel vaak (80–99%)
Abnormal formation of the hip	Vaak (30–79%)
Atlantoaxial dislocation	Vaak (30–79%)
Decreased hip abduction	Vaak (30–79%)
Funnel chest	Vaak (30–79%)
Hunched back	Vaak (30–79%)
Increased susceptibility to fractures	Vaak (30–79%)
Kyphoscoliosis	Vaak (30–79%)
Low muscle tone in trunk	Vaak (30–79%)
Low muscle tone, in neonatal onset	Vaak (30–79%)
Low solidness and mass of the bones	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
Thoracic kyphosis	Vaak (30–79%)
Thoracic scoliosis	Vaak (30–79%)
Osteoporosis	Soms (5–29%)
Recurrent fractures	Soms (5–29%)
Spasticity and rigidity of muscles	Soms (5–29%)
Hypoplasia of the odontoid process	Niet vastgelegd
Large sternal ossification centers	Niet vastgelegd
Short sternum	Niet vastgelegd

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Bulging eye	Altijd
Blue outer white part of eyeball	Heel vaak (80–99%)
Astigmatism	Vaak (30–79%)
Close sighted	Vaak (30–79%)
Cross-eyed	Vaak (30–79%)
Farsightedness	Vaak (30–79%)
Optic nerve hypoplasia	Vaak (30–79%)
Severe near sightedness	Vaak (30–79%)
Wide-set eyes	Vaak (30–79%)
Deeply set eye	Soms (5–29%)
Glaucoma	Soms (5–29%)
Horizontal nystagmus	Soms (5–29%)
Involuntary, rapid, rhythmic eye movements	Soms (5–29%)
Lazy eye	Soms (5–29%)
Optic atrophy	Soms (5–29%)
Optic disc hypoplasia	Soms (5–29%)
Optic disc pallor	Soms (5–29%)

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Bowing of the long bones	Heel vaak (80–99%)
Bunion	Vaak (30–79%)
Coxa valga	Vaak (30–79%)
Coxa vara	Vaak (30–79%)
Curvature of little finger	Vaak (30–79%)
Long fingers	Vaak (30–79%)
Prominent fingertip pads	Vaak (30–79%)
Slender finger	Vaak (30–79%)
Curvature of digit	Soms (5–29%)
High-arched foot	Soms (5–29%)
Hip dislocation	Soms (5–29%)
Partial hip dislocation	Soms (5–29%)
Bullet-shaped middle phalanges of the hand	Niet vastgelegd
Short outermost finger bone	Niet vastgelegd
Wide outermost end of long bone	Niet vastgelegd

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Cutis marmorata	Vaak (30–79%)
Dysplastic aortic valve	Vaak (30–79%)
Abnormal cardiovascular system morphology	Soms (5–29%)
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Extra heart beat	Soms (5–29%)
Hole in heart wall separating two lower heart chambers	Soms (5–29%)
Increased blood pressure in blood vessels of lungs	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
High blood pressure	Niet vastgelegd

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Feeding difficulties	Vaak (30–79%)
Feeding difficulties in infancy	Vaak (30–79%)
Acid reflux	Soms (5–29%)
Anteriorly placed anus	Soms (5–29%)
Constipation	Soms (5–29%)
Episodic vomiting	Soms (5–29%)
Pyloric stenosis	Soms (5–29%)
Umbilical hernia	Soms (5–29%)
Omphalocele	Niet vastgelegd

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Bilateral conductive hearing impairment	Vaak (30–79%)
Cholesteatoma	Vaak (30–79%)
Conductive deafness	Vaak (30–79%)
Hearing impairment	Vaak (30–79%)
Low-set ears	Vaak (30–79%)
Overfolded ears	Vaak (30–79%)
Ears rotated toward back of head	Soms (5–29%)
Small ears	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Decreased body weight	Altijd
General overgrowth	Altijd
Faltering weight	Heel vaak (80–99%)
Prenatal growth deficiency	Heel vaak (80–99%)
Growth delay	Vaak (30–79%)
Short stature	Vaak (30–79%)
Tall stature	Vaak (30–79%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Excessive hair growth	Heel vaak (80–99%)
Thin skin	Heel vaak (80–99%)
Beauty mark	Vaak (30–79%)
Brittle hair	Vaak (30–79%)
Excessive hairiness over body	Vaak (30–79%)
Sparse hair	Vaak (30–79%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Obstructive lung disease	Heel vaak (80–99%)
Noisy breathing	Vaak (30–79%)
Softening of voice box tissue	Vaak (30–79%)
Apnea	Niet vastgelegd

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Bilateral cryptorchidism	Vaak (30–79%)
Undescended testes	Vaak (30–79%)
Unilateral cryptorchidism	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Aspiration pneumonia	Vaak (30–79%)
Recurrent aspiration pneumonia	Vaak (30–79%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Bruising susceptibility	Vaak (30–79%)

Abnormality of the breast

Kenmerk	Hoe vaak het voorkomt
Inverted nipples	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Early onset of puberty	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan NFIX gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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