This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Neuroma |
Nerve tumor
Pinched nerve
[ more ]
|
0030430 |
30%-79% of people have these symptoms | ||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
|
0001317 |
Abnormal hand morphology |
Abnormal shape of hand
|
0005922 |
Babinski sign | 0003487 | |
Bilateral vestibular Schwannoma | 0009589 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Constipation | 0002019 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Dysuria |
Painful or difficult urination
|
0100518 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Global |
0001263 | |
Hyperesthesia | 0100963 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ]
|
0002495 |
Intracranial meningioma | 0100009 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
Motor delay | 0001270 | |
Myelopathy | 0002196 | |
Overbite | 0011094 | |
Peripheral Schwannoma | 0009593 | |
Posterior subcapsular cataract | 0007787 | |
Sensorineural hearing impairment | 0000407 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Slurred speech | 0001350 | |
Spastic |
0002464 | |
Spastic paraparesis | 0002313 | |
Specific learning disability | 0001328 | |
Spinal cord tumor |
Tumor of the spinal cord
|
0010302 |
Upper limb muscle weakness |
Decreased arm strength
Weak arm
[ more ]
|
0003484 |
5%-29% of people have these symptoms | ||
Abnormal thumb morphology |
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity
[ more ]
|
0001172 |
Abnormality of the nares |
Abnormality of the nostrils
|
0005288 |
Abnormality of the optic nerve |
Optic nerve issue
|
0000587 |
Amblyopia |
Lazy eye
Wandering eye
[ more ]
|
0000646 |
Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Blindness | 0000618 | |
Brain stem compression | 0002512 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Cortical cataract | 0100019 | |
Diplopia |
Double vision
|
0000651 |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Dysarthria |
Difficulty articulating speech
|
0001260 |
Emotional lability |
Emotional instability
|
0000712 |
Ependymoma | 0002888 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Epiretinal membrane | 0100014 | |
Facial palsy |
Bell's palsy
|
0010628 |
Foot dorsiflexor weakness |
Foot drop
|
0009027 |
Genu valgum |
Knock knees
|
0002857 |
Hallucinations |
Hallucination
Sensory hallucination
[ more ]
|
0000738 |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
|
0002354 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Mononeuropathy |
Single damaged nerve
|
0009831 |
Occasional neurofibromas | 0009595 | |
Panic attack | 0025269 | |
Pes cavus |
High-arched foot
|
0001761 |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Postural instability |
Balance impairment
|
0002172 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Psychosis | 0000709 | |
Retinal hamartoma | 0009594 | |
Seizure | 0001250 | |
Sensory impairment | 0003474 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
Spastic gait |
Spastic walk
|
0002064 |
Speech apraxia | 0011098 | |
Spinal meningioma | 0100010 | |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ]
|
0000360 |
Unsteady gait |
Unsteady walk
|
0002317 |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
Wrist drop | 0031189 | |
1%-4% of people have these symptoms | ||
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ]
|
0002381 |
Astrocytoma | 0009592 | |
0001251 | ||
Cafe-au-lait spot | 0000957 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hydronephrosis | 0000126 | |
Juvenile posterior subcapsular lenticular opacities | 0007935 | |
Meningioma | 0002858 | |
Remnants of the hyaloid vascular system | 0007968 | |
Unilateral vestibular Schwannoma | 0009590 | |
Vertigo |
Dizzy spell
|
0002321 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Headache |
Headaches
|
0002315 |
0009830 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The main differential diagnosis of NF2 is schwannomatosis.
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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