Phenotypes associated with the disease Kufor-Rakeb syndrome (ORPHA:306674):
- Slow saccadic eye movements (HP:0000514): An abnormally slow velocity of the saccadic eye movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Supranuclear gaze palsy (HP:0000605): A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Parkinsonism (HP:0001300): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Upper limb hyperreflexia (HP:0007350): Increased intensity of the a reflex in the arm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306674)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Tongue muscle weakness (HP:0000183): Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Hypomimic face (HP:0000338): A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Abnormal finger morphology (HP:0001167): An anomaly of a finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Visual hallucination (HP:0002367): Visual perception in the absence of a visual stimulus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Anarthria (HP:0002425): A defect in the motor ability that enables speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Leg muscle stiffness (HP:0008969). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Oculogyric crisis (HP:0010553): An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Abnormality of mental function (HP:0011446): Cognitive, psychiatric, or memory anomaly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Dyskinesia (HP:0100660): A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306674)
- Vertical supranuclear gaze palsy (HP:0000511): A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- 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:306674)
- Blepharospasm (HP:0000643): A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Eyelid apraxia (HP:0000658). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- 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: Occasional (HP:0040283). (ORPHA:306674)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Bradykinesia (HP:0002067): Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Upper motor neuron dysfunction (HP:0002493): A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Bowel incontinence (HP:0002607): Involuntary fecal soiling in adults and children who have usually already been toilet trained. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Hyperactive patellar reflex (HP:0007083). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Stooped posture (HP:0025403): A habitual positioning of the body with the head and upper back bent forward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)
- Lingual dystonia (HP:0031008): Involuntary protrusions, movements, spams and contortions of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306674)