Clinical Signs and Symptoms
ORPHA:637 Neurofibromatosis type 2
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Neuroma HP:0030430
Very frequent
- Abnormality of the eye HP:0000478
- Bilateral vestibular Schwannoma HP:0009589
- Hyperesthesia HP:0100963
- Intracranial meningioma HP:0100009
- Meningioma HP:0002858
- Myelopathy HP:0002196
- Peripheral Schwannoma HP:0009593
- Posterior subcapsular cataract HP:0007787
- Reduced visual acuity HP:0007663
- Sensorineural hearing impairment HP:0000407
- Spinal cord tumor HP:0010302
Frequent
- Abnormal cerebellum morphology HP:0001317
- Abnormality of the optic nerve HP:0000587
- Amblyopia HP:0000646
- Blindness HP:0000618
- Brain stem compression HP:0002512
- Cortical cataract HP:0100019
- Cranial nerve paralysis HP:0006824
- Diplopia HP:0000651
- Dysarthria HP:0001260
- Dysphagia HP:0002015
- Ependymoma HP:0002888
- Epiretinal membrane HP:0100014
- Facial palsy HP:0010628
- Foot dorsiflexor weakness HP:0009027
- Hemiparesis HP:0001269
- Hydrocephalus HP:0000238
- Hyperpigmentation of the skin HP:0000953
- Memory impairment HP:0002354
- Mononeuropathy HP:0009831
- Neoplasm of the skin HP:0008069
- Polyneuropathy HP:0001271
- Postural instability HP:0002172
- Retinal hamartoma HP:0009594
- Seizures HP:0001250
- Sensory impairment HP:0003474
- Sensory neuropathy HP:0000763
- Spinal meningioma HP:0100010
- Tinnitus HP:0000360
- Unsteady gait HP:0002317
- Visual loss HP:0000572
- Wrist drop HP:0031189
Occasional
- Aphasia HP:0002381
- Astrocytoma HP:0009592
- Glioma HP:0009733
- Remnants of the hyaloid vascular system HP:0007968
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.