- Juvenile posterior subcapsular lenticular opacities (HP:0007935). Evidence: PCS. Frequency: 36/45. (PMID:8318482)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 68/183. (PMID:1484939)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 8/100. (PMID:1484939)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 10/120. (PMID:1484939)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 10/120. (PMID:1484939)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: PCS. Frequency: 19/183. (PMID:1484939)
- Epiretinal membrane (HP:0100014): An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. Evidence: PCS. Frequency: 1/63. (PMID:1484939)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 81/148. (PMID:1484939)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: PCS. Frequency: 158/355. (PMID:1484939;PMID:19545378)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:19545378)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: PCS. Frequency: 179/415. (PMID:8727812;PMID:1484939;PMID:19545378)
- Vestibular schwannoma (HP:0009588): A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. Evidence: PCS. Frequency: 62/63. (PMID:1484939)
- Axillary freckling (HP:0000997): The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: PCS. Frequency: 0/100. (PMID:1484939)
- Bilateral vestibular schwannoma (HP:0009589): A bilateral vestibular schwannoma (acoustic neurinoma). Evidence: PCS. Frequency: 43/48. (PMID:8727812)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 2/63. (PMID:1484939)
- Optic nerve sheath meningioma (HP:0500089): A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. Evidence: PCS. Frequency: 15/294. (PMID:1484939;PMID:19545378)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 30/48. (PMID:8727812)
- Personality changes (HP:0000751): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: PCS. Frequency: 1/63. (PMID:1484939)
- Neurofibroma (HP:0001067): A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. Evidence: PCS. Frequency: 27/100. (PMID:1484939)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: PCS. Frequency: 7/63. (PMID:1484939)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: PCS. Frequency: 1/63. (PMID:1484939)
- Unilateral vestibular schwannoma (HP:0009590): A unilateral vestibular schwannoma (acoustic neurinoma). Evidence: PCS. Frequency: 65/111. (PMID:8727812;PMID:7747758)
- Peripheral schwannoma (HP:0009593): The presence of a peripheral schwannoma. Evidence: PCS. (PMID:31881415)
- Astrocytoma (HP:0009592): Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. Evidence: PCS. Frequency: 1/63. (PMID:1484939)
- Retinal hamartoma (HP:0009594): A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Evidence: PCS. Frequency: 5/58. (PMID:7747758)
- Cortical cataract (HP:0100019): A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. Evidence: PCS. Frequency: 17/45. Onset: Juvenile onset (HP:0003621). (PMID:8318482)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 3/100. (PMID:1484939)
- Inguinal freckling (HP:0030052): The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: PCS. Frequency: 0/100. (PMID:1484939)
- Ependymoma (HP:0002888): The presence of an ependymoma of the central nervous system. Evidence: PCS. Frequency: 10/294. (PMID:1484939;PMID:19545378)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:1484939)
- Lisch nodules (HP:0009737): The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. Evidence: PCS. Frequency: 2/55. (PMID:1484939)
These phenotypes are associated with the disease NF2-related schwannomatosis (OMIM:101000).