| HP:0000006 | Autosomal dominant inheritance | "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." [HPO:curators] |
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| HP:0000360 | Tinnitus | "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." [Cochrane:ab005233] |
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| HP:0000365 | Hearing loss | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001428 | Somatic mutation | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0002076 | Migraine | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002858 | Meningioma | |
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| HP:0002888 | Ependymoma | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003828 | Variable expressivity | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0007565 | Multiple cafe-au-lait spots | |
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| HP:0007935 | Juvenile posterior subcapsular lenticular opacities | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008046 | Abnormality of the retinal vasculature | |
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| HP:0009193 | Pseudoepiphyses of the metacarpals | "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [HPO:doelkens] |
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| HP:0009589 | Bilateral vestibular Schwannoma | "A bilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] |
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| HP:0009590 | Unilateral vestibular Schwannoma | "A unilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] |
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| HP:0009592 | Astrocytoma | "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators] |
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| HP:0009593 | Peripheral Schwannoma | "A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells." [HPO:curators] |
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| HP:0009594 | Retinal hamartoma | "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:curators] |
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| HP:0009595 | Occasional neurofibromas | "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [HPO:curators] |
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| HP:0009830 | Peripheral neuropathy | "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." [HPO:curators] |
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| HP:0010302 | Spinal tumor | "A cancerous or noncancerous growth that develops within or near the spinal cord or in the bones of the spine." [HPO:curators] |
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| HP:0010526 | Dysgraphia | "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0100008 | Abnormality of the Schwann Cells | "An abnormality of the schwann cells, which are glia of the peripheral nervous system (PNS)." [HPO:sdoelken] |
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| HP:0100014 | Epiretinal membrane | "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken] |
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| HP:0100019 | Cortical cataract | "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the `lens cortex` (FMA:58970). It is identified by its unique wedge or spoke appearance." [HPO:sdoelken] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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