Phenotypes associated with the disease Ataxia-telangiectasia-like disorder (ORPHA:251347):
- 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:251347)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Slow saccadic eye movements (HP:0000514): An abnormally slow velocity of the saccadic eye movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- 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: Frequent (HP:0040282). (ORPHA:251347)
- 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:251347)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- 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: Frequent (HP:0040282). (ORPHA:251347)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Intention tremor (HP:0002080): A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Dilated fourth ventricle (HP:0002198): An abnormal dilatation of the fourth cerebral ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Orofacial dyskinesia (HP:0002310). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- 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: Frequent (HP:0040282). (ORPHA:251347)
- Enlarged interhemispheric fissure (HP:0100953). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:251347)
- Abnormality of ocular smooth pursuit (HP:0000617): An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Gaze-evoked nystagmus (HP:0000640): Nystagmus made apparent by looking to the right or to the left. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Dysmetric saccades (HP:0000641): The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- 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:251347)
- Dysdiadochokinesis (HP:0002075): A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Drooling (HP:0002307): Habitual flow of saliva out of the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Hyperactive deep tendon reflexes (HP:0006801). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Vertical nystagmus (HP:0010544): Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Small posterior fossa (HP:0040010). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:251347)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:251347)