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

Abnormality of the eye

Trait	How often it is seen
Juvenile posterior subcapsular lenticular opacities	Very often (80–99%)
Abnormality of the eye	Often (30–79%)
Bitemporal hemianopia	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cortical cataract	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Abnormal kinetic perimetry test	Sometimes (5–29%)
Blindness	Sometimes (5–29%)
Double vision	Sometimes (5–29%)
Epiretinal membrane	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Optic nerve issue	Sometimes (5–29%)
Papilledema	Sometimes (5–29%)
Slow decrease in sharpness of vision	Sometimes (5–29%)
Visual acuity test abnormality	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Weak extraocular muscles	Sometimes (5–29%)
Bulging eye	Rarely (1–4%)
Remnants of the hyaloid vascular system	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating ACTH concentration	Often (30–79%)
Decreased circulating follicle stimulating hormone concentration	Often (30–79%)
Decreased circulating luteinizing hormone level	Often (30–79%)
Decreased serum estradiol	Often (30–79%)
Decreased serum testosterone level	Often (30–79%)
Hypogonadotropic hypogonadism	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Low blood cortisol level	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Secondary growth hormone deficiency	Often (30–79%)
Abnormal hypothalamus physiology	Sometimes (5–29%)
Enlarged pituitary gland	Sometimes (5–29%)
Hypothalamic hypothyroidism	Sometimes (5–29%)
Neoplasm of the anterior pituitary	Sometimes (5–29%)
Reduced circulating prolactin concentration	Sometimes (5–29%)
Neoplasm of the posterior pituitary	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Bilateral vestibular schwannoma	Very often (80–99%)
Vestibular schwannoma	Very often (80–99%)
Hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Unilateral vestibular schwannoma	Often (30–79%)
Dizziness	Sometimes (5–29%)
Ringing in ears	Sometimes (5–29%)
Ear pain	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the sense of smell	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Retinal hamartoma	Sometimes (5–29%)
Lisch nodules	Rarely (1–4%)
Neoplasm of the tongue	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Often (30–79%)
Peripheral schwannoma	Often (30–79%)
Neurofibroma	Sometimes (5–29%)
Patchy darkened skin	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fatty lump	Sometimes (5–29%)
Functional motor deficit	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Back pain	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Sometimes (5–29%)
Foot drop	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)
Wrist drop	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Often (30–79%)
Difficulty getting a full erection	Often (30–79%)
Uterine leiomyoma	Sometimes (5–29%)
Loss of bladder control	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Chromosomal breakage induced by ionizing radiation	Very often (80–99%)
Increased sensitivity to ionizing radiation	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Lumbosacral hemangioma	Sometimes (5–29%)
Fainting spell	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Often (30–79%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality on pulmonary function testing	Rarely (1–4%)
Progressive pulmonary function impairment	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Rarely (1–4%)

Abnormality of the thoracic cavity

Trait	How often it is seen
Abnormal mediastinum morphology	Rarely (1–4%)

Abnormality of the voice

Trait	How often it is seen
Weak voice	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Pain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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