Phenotypes associated with the disease Usher syndrome (ORPHA:886):
- 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: Very frequent (HP:0040281). (ORPHA:886)
- 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: Very frequent (HP:0040281). (ORPHA:886)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- 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: Very frequent (HP:0040281). (ORPHA:886)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- Vestibular areflexia (HP:0008568): Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:886)
- 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:886)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:886)
- 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:886)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:886)
- 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:886)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Hallucinations (HP:0000738): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Aplasia/Hypoplasia of the cerebellum (HP:0007360). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Hyperacusis (HP:0010780): Over-sensitivity to certain frequency ranges of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Abnormal cardiovascular system physiology (HP:0011025): Abnormal functionality of the cardiovascular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Abnormality of dental color (HP:0011073): A developmental defect of tooth color. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:886)