- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:67036)
- 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:67036)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:67036)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- 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: Frequent (HP:0040282). (ORPHA:67036)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Areflexia of lower limbs (HP:0002522): Inability to elicit tendon reflexes in the lower limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- 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: Frequent (HP:0040282). (ORPHA:67036)
- Posterior cortical cataract (HP:0010924): A cataract that affects the posterior part of the cortex of the lens. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:67036)
- Tritanomaly (HP:0000552): Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- 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:67036)
- Red-green dyschromatopsia (HP:0000642): Difficulty with discriminating red and green hues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Diminished deep tendon reflex (HP:0001315): A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Resting tremor (HP:0002322): A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Positive Romberg sign (HP:0002403): The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Absent Achilles reflex (HP:0003438): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Limited wrist movement (HP:0006248): An abnormal limitation of the mobility of the wrist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Extrapyramidal muscular rigidity (HP:0007076): Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- 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: Occasional (HP:0040283). (ORPHA:67036)
- Anterior cortical cataract (HP:0007795): A cataract that affects the anterior part of the cortex of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Cerulean cataract (HP:0007976): Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Deviation of the 2nd finger (HP:0009468): Displacement of the 2nd finger from its normal position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Dyslexia (HP:0010522): A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
- Anterior subcapsular cataract (HP:0010923): A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:67036)
These phenotypes are associated with the disease Autosomal dominant optic atrophy and cataract (ORPHA:67036).