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.
- Ataxia HP:0001251
- Sensorineural hearing impairment HP:0000407
- Tinnitus HP:0000360
- Vertigo HP:0002321
Very frequent
- Cataract HP:0000518
- Migraine HP:0002076
- Neoplasm of the skin HP:0008069
Frequent
- Abnormality of the retinal vasculature HP:0008046
- Astrocytoma HP:0009592
- Benign neoplasm of the central nervous system HP:0100835
- Corneal opacity HP:0007957
- Cranial nerve paralysis HP:0006824
- Dysgraphia HP:0010526
- Facial palsy HP:0010628
- Gait disturbance HP:0001288
- Increased intracranial pressure HP:0002516
- Meningioma HP:0002858
- Multiple cafe-au-lait spots HP:0007565
- Neoplasm of the central nervous system HP:0100006
- Occasional neurofibromas HP:0009595
- Papule HP:0200034
- Pseudoepiphyses of the metacarpals HP:0009193
- Sensory neuropathy HP:0000763
- Subcutaneous nodule HP:0001482
- Visual impairment HP:0000505
Occasional
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.