Phenotypes associated with the disease early-onset parkinsonism-intellectual disability syndrome (OMIM:311510, an entry in Online Mendelian Inheritance in Man):
- Poor speech (HP:0002465, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:311510)
- 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:26399558)
- 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: 7/7. (PMID:26399558)
- Megalencephaly (HP:0001355, a Human Phenotype Ontology term): Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). Evidence: TAS. (OMIM:311510)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 5/7. (PMID:26399558)
- 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: 7/7. (PMID:26399558)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 2/7. (PMID:26399558)
- 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: TAS. (OMIM:311510)
- 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: TAS. (OMIM:311510)
- 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: TAS. (OMIM:311510)
- 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: TAS. (OMIM:311510)
- 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: TAS. (OMIM:311510)
- Rigidity (HP:0002063, a Human Phenotype Ontology term): 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: PCS. Frequency: 7/7. (PMID:26399558)
- 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: 5/7. (PMID:26399558)
- Dyskinesia (HP:0100660, a Human Phenotype Ontology term): A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. Evidence: TAS. (OMIM:311510)
- Lewy bodies (HP:0100315, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:311510)
- Dementia (HP:0000726, a Human Phenotype Ontology term): 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: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:311510)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:26399558)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/7. (PMID:26399558)
- Parkinsonism with favorable response to dopaminergic medication (HP:0002548, a Human Phenotype Ontology term): Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. Evidence: PCS. Frequency: 6/6. (PMID:26399558)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:311510)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. (OMIM:311510)