Phenotypes associated with the disease Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome (ORPHA:3151):
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- 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: Very frequent (HP:0040281). (ORPHA:3151)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Abnormal leukocyte morphology (HP:0001881): An abnormality of leukocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Abnormality of coagulation (HP:0001928): An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Hemiplegia/hemiparesis (HP:0004374): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3151)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)
- Retrobulbar optic neuritis (HP:0100654): Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3151)