- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- 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:1320)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- EMG: neuropathic changes (HP:0003445): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- Abnormal intervertebral disk morphology (HP:0005108): Any structural abnormality of the intervertebral disk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- EMG: impaired neuromuscular transmission (HP:0100285): An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1320)
- Abnormality of the head (HP:0000234): An abnormality of the head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- 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: Occasional (HP:0040283). (ORPHA:1320)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- Proximal spinal muscular atrophy (HP:0006959): Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- Amyotrophic lateral sclerosis (HP:0007354). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- Abnormal inflammatory response (HP:0012647): Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- Abnormality of movement (HP:0100022): An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1320)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Frontotemporal dementia (HP:0002145): A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Alzheimer disease (HP:0002511): A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Abnormal synaptic transmission at the neuromuscular junction (HP:0003398): Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Mitochondrial myopathy (HP:0003737): A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Abnormal pons morphology (HP:0007361): A structural abnormality of the pons. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Myelitis (HP:0012486): Inflammation of the spinal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Abnormal muscle fiber dysferlin (HP:0030113): A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Fatigable weakness of skeletal muscles (HP:0030197): A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Lewy bodies (HP:0100315). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1320)
These phenotypes are associated with the disease Idiopathic camptocormia (ORPHA:1320).