- Neuroma (HP:0030430): A tumor made up of nerve cells and nerve fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:637)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Myelopathy (HP:0002196): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Bilateral vestibular schwannoma (HP:0009589): A bilateral vestibular schwannoma (acoustic neurinoma). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Peripheral schwannoma (HP:0009593): The presence of a peripheral schwannoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Spinal cord tumor (HP:0010302): A neoplasm affecting the spinal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Intracranial meningioma (HP:0100009). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Hyperesthesia (HP:0100963): Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:637)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Abnormal optic nerve morphology (HP:0000587): Abnormality of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Postural instability (HP:0002172): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Brain stem compression (HP:0002512). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Ependymoma (HP:0002888): The presence of an ependymoma of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Retinal hamartoma (HP:0009594): A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Mononeuropathy (HP:0009831): A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Wrist drop (HP:0031189): A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Spinal meningioma (HP:0100010). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:637)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:637)
- Remnants of the hyaloid vascular system (HP:0007968): Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:637)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:637)
- Glioma (HP:0009733): The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:637)
These phenotypes are associated with the disease Full NF2-related schwannomatosis (ORPHA:637).