Phenotypes associated with the disease neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (OMIM:620747, an entry in Online Mendelian Inheritance in Man):
- Resting tremor (HP:0002322, a Human Phenotype Ontology term): 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: PCS. Frequency: 6/7. (PMID:27134041;PMID:30398675;PMID:27753167)
- Bradykinesia (HP:0002067, a Human Phenotype Ontology term): 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: PCS. Frequency: 3/3. (PMID:27134041;PMID:30398675)
- Freezing of gait (HP:0031825, a Human Phenotype Ontology term): Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. Evidence: PCS. Frequency: 1/1. (PMID:27134041)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/7. (PMID:27134041;PMID:30398675;PMID:27753167)
- Shuffling gait (HP:0002362, a Human Phenotype Ontology term): A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. Evidence: PCS. Frequency: 1/1. (PMID:27753167)
- Sensory axonal neuropathy (HP:0003390, a Human Phenotype Ontology term): An axonal neuropathy of peripheral sensory nerves. Evidence: PCS. Frequency: 4/4. (PMID:27134041;PMID:27753167)
- Depression (HP:0000716, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/4. (PMID:27134041;PMID:27753167)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:27134041;PMID:27753167)
- Froment sign (HP:0032121, a Human Phenotype Ontology term): An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. Evidence: PCS. Frequency: 1/1. (PMID:27753167)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): 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: PCS. Frequency: 3/4. (PMID:27134041;PMID:27753167)
- Slow saccadic eye movements (HP:0000514, a Human Phenotype Ontology term): An abnormally slow velocity of the saccadic eye movements. Evidence: PCS. Frequency: 1/2. (PMID:27134041)
- Foot dorsiflexor weakness (HP:0009027, a Human Phenotype Ontology term): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: PCS. Frequency: 1/1. (PMID:27134041)
- Restlessness (HP:0000711, a Human Phenotype Ontology term): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: PCS. Frequency: 2/2. (PMID:27134041;PMID:27753167)
- Short attention span (HP:0000736, a Human Phenotype Ontology term): Reduced attention span characterized by distractibility and impulsivity. Evidence: PCS. Frequency: 1/1. (PMID:27134041)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 4/4. (PMID:27134041;PMID:27753167)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 5/6. (PMID:27134041;PMID:30398675;PMID:27753167)
- Bruxism (HP:0003763, a Human Phenotype Ontology term): Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. Evidence: PCS. Frequency: 1/5. (PMID:27134041;PMID:30398675;PMID:27753167)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 1/2. (PMID:27134041)
- Parkinsonism (HP:0001300, a Human Phenotype Ontology term): 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: PCS. Frequency: 6/6. (PMID:27134041;PMID:30398675;PMID:27753167)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 5/5. (PMID:27134041;PMID:30398675;PMID:27753167)
- Mask-like facies (HP:0000298, a Human Phenotype Ontology term): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: PCS. Frequency: 2/2. (PMID:30398675;PMID:27753167)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): 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: PCS. Frequency: 3/4. (PMID:27134041;PMID:30398675;PMID:27753167)
- Amplification of sexual behavior (HP:5200321, a Human Phenotype Ontology term): An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm. Evidence: PCS. Frequency: 3/4. (PMID:27134041;PMID:27753167)
- Cogwheel rigidity (HP:0002396, a Human Phenotype Ontology term): A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). Evidence: PCS. Frequency: 3/3. (PMID:30398675;PMID:27753167)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): 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: PCS. Frequency: 4/4. (PMID:27134041;PMID:27753167)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 4/4. (PMID:27134041;PMID:30398675)
- Postural tremor (HP:0002174, a Human Phenotype Ontology term): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: PCS. Frequency: 3/7. (PMID:27134041;PMID:30398675;PMID:27753167)
- Excessive daytime somnolence (HP:0001262, a Human Phenotype Ontology term): A state of abnormally strong desire for sleep during the daytime. Evidence: PCS. Frequency: 2/5. (PMID:27134041;PMID:30398675;PMID:27753167)
- Postural instability (HP:0002172, a Human Phenotype Ontology term): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: PCS. Frequency: 4/4. (PMID:27134041;PMID:27753167)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27134041)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/1. (PMID:27753167)
- Distal lower limb amyotrophy (HP:0008944, a Human Phenotype Ontology term): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 2/2. (PMID:27134041;PMID:27753167)