Traits

Traits linked to NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

The Human Phenotype Ontology links 131 traits to NF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Schwannoma	Altijd
Intracranial meningioma	Heel vaak (80–99%)
Nerve tumor	Heel vaak (80–99%)
Abnormal brain FDG positron emission tomography	Vaak (30–79%)
Epilepsy	Vaak (30–79%)
Focal T2 hypointense thalamic lesion	Vaak (30–79%)
Headache	Vaak (30–79%)
Hyperesthesia	Vaak (30–79%)
Myelopathy	Vaak (30–79%)
Noncancerous growth of membranes covering brain	Vaak (30–79%)
Seizure affecting one half of brain	Vaak (30–79%)
Spinal cord tumor	Vaak (30–79%)
Abnormal central motor function	Soms (5–29%)
Abnormal central sensory function	Soms (5–29%)
Abnormal gait	Soms (5–29%)
Abnormality of the cerebellum	Soms (5–29%)
Ataxia	Soms (5–29%)
Balance impairment	Soms (5–29%)
Brain stem compression	Soms (5–29%)
Cognitive impairment	Soms (5–29%)
Cranial nerve paralysis	Soms (5–29%)
Damage to nerves that sense feeling	Soms (5–29%)
Difficulty articulating speech	Soms (5–29%)
Ependymoma	Soms (5–29%)
Memory impairment	Soms (5–29%)
Optic nerve sheath meningioma	Soms (5–29%)
Peripheral nerve disease	Soms (5–29%)
Pins and needles feeling	Soms (5–29%)
Rise in pressure inside skull	Soms (5–29%)
Single damaged nerve	Soms (5–29%)
Somatic sensory dysfunction	Soms (5–29%)
Spinal meningioma	Soms (5–29%)
Too much cerebrospinal fluid in the brain	Soms (5–29%)
Trigeminal neuralgia	Soms (5–29%)
Unsteady walk	Soms (5–29%)
Weakness of one side of body	Soms (5–29%)
Abnormal speech pattern	Zelden (1–4%)
Astrocytoma	Zelden (1–4%)
Can't control feelings	Zelden (1–4%)
Difficulty finding words	Zelden (1–4%)
Excessive daytime sleepiness	Zelden (1–4%)
Glioma	Zelden (1–4%)
Muscle twitch	Zelden (1–4%)
Numbness	Zelden (1–4%)
Peripheral neuropathy	Zelden (1–4%)
Personality changes	Zelden (1–4%)
Spasms on one side of the face	Zelden (1–4%)
Transient global amnesia	Zelden (1–4%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Juvenile posterior subcapsular lenticular opacities	Heel vaak (80–99%)
Abnormality of the eye	Vaak (30–79%)
Bitemporal hemianopia	Vaak (30–79%)
Clouding of the lens of the eye	Vaak (30–79%)
Cortical cataract	Vaak (30–79%)
Decreased clarity of vision	Vaak (30–79%)
Posterior subcapsular cataract	Vaak (30–79%)
Abnormal kinetic perimetry test	Soms (5–29%)
Blindness	Soms (5–29%)
Double vision	Soms (5–29%)
Epiretinal membrane	Soms (5–29%)
Eye muscle paralysis	Soms (5–29%)
Lazy eye	Soms (5–29%)
Oculomotor nerve palsy	Soms (5–29%)
Optic nerve issue	Soms (5–29%)
Papilledema	Soms (5–29%)
Slow decrease in sharpness of vision	Soms (5–29%)
Visual acuity test abnormality	Soms (5–29%)
Visual loss	Soms (5–29%)
Weak extraocular muscles	Soms (5–29%)
Bulging eye	Zelden (1–4%)
Remnants of the hyaloid vascular system	Zelden (1–4%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Decreased circulating ACTH concentration	Vaak (30–79%)
Decreased circulating follicle stimulating hormone concentration	Vaak (30–79%)
Decreased circulating luteinizing hormone level	Vaak (30–79%)
Decreased serum estradiol	Vaak (30–79%)
Decreased serum testosterone level	Vaak (30–79%)
Hypogonadotropic hypogonadism	Vaak (30–79%)
Increased circulating prolactin concentration	Vaak (30–79%)
Low blood cortisol level	Vaak (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Vaak (30–79%)
Secondary growth hormone deficiency	Vaak (30–79%)
Abnormal hypothalamus physiology	Soms (5–29%)
Enlarged pituitary gland	Soms (5–29%)
Hypothalamic hypothyroidism	Soms (5–29%)
Neoplasm of the anterior pituitary	Soms (5–29%)
Reduced circulating prolactin concentration	Soms (5–29%)
Neoplasm of the posterior pituitary	Zelden (1–4%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Bilateral vestibular schwannoma	Heel vaak (80–99%)
Vestibular schwannoma	Heel vaak (80–99%)
Hearing impairment	Vaak (30–79%)
Sensorineural hearing impairment	Vaak (30–79%)
Unilateral vestibular schwannoma	Vaak (30–79%)
Dizziness	Soms (5–29%)
Ringing in ears	Soms (5–29%)
Ear pain	Zelden (1–4%)

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Abnormality of the sense of smell	Soms (5–29%)
Bell's palsy	Soms (5–29%)
Retinal hamartoma	Soms (5–29%)
Lisch nodules	Zelden (1–4%)
Neoplasm of the tongue	Zelden (1–4%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Birthmark	Vaak (30–79%)
Peripheral schwannoma	Vaak (30–79%)
Neurofibroma	Soms (5–29%)
Patchy darkened skin	Soms (5–29%)
Skin cancer	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Fatty lump	Soms (5–29%)
Functional motor deficit	Soms (5–29%)
Muscle weakness	Soms (5–29%)
Scoliosis	Soms (5–29%)
Back pain	Zelden (1–4%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Decreased arm strength	Soms (5–29%)
Foot drop	Soms (5–29%)
Lower limb muscle weakness	Soms (5–29%)
Wrist drop	Soms (5–29%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormal absence of menstruation	Vaak (30–79%)
Difficulty getting a full erection	Vaak (30–79%)
Uterine leiomyoma	Soms (5–29%)
Loss of bladder control	Zelden (1–4%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Chromosomal breakage induced by ionizing radiation	Heel vaak (80–99%)
Increased sensitivity to ionizing radiation	Heel vaak (80–99%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Lumbosacral hemangioma	Soms (5–29%)
Fainting spell	Zelden (1–4%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Nausea and vomiting	Vaak (30–79%)
Poor swallowing	Soms (5–29%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Abnormality on pulmonary function testing	Zelden (1–4%)
Progressive pulmonary function impairment	Zelden (1–4%)

Abnormal tissue mass

Trait	Hoe vaak het voorkomt
Abnormal tissue mass	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Bleeding in brain	Zelden (1–4%)

Abnormality of the thoracic cavity

Trait	Hoe vaak het voorkomt
Abnormal mediastinum morphology	Zelden (1–4%)

Abnormality of the voice

Trait	Hoe vaak het voorkomt
Weak voice	Zelden (1–4%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Pain	Vaak (30–79%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Obesity	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NF2 and how often each is seen. Find out more at hpo.jax.org.

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