- Acute encephalopathy (HP:0006846, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/3. (PMID:32627353;PMID:32813957)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:32813957)
- Visual hallucination (HP:0002367, a Human Phenotype Ontology term): Visual perception in the absence of a visual stimulus. Evidence: PCS. Frequency: 2/2. (PMID:32627353)
- Diplopia (HP:0000651, a Human Phenotype Ontology term): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: PCS. Frequency: 1/1. (PMID:32813957)
- Vomiting (HP:0002013, a Human Phenotype Ontology term): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 3/3. (PMID:32627353;PMID:32813957)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:32813957)
- Reduced consciousness (HP:0004372, a Human Phenotype Ontology term): Abnormally diminished level of attention, responsiveness, or wakefulness. Evidence: PCS. Frequency: 2/2. (PMID:32627353)
- 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:32813957)
- Abnormal pyramidal sign (HP:0007256, a Human Phenotype Ontology term): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: PCS. Frequency: 1/1. (PMID:32813957)
- 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: 2/2. (PMID:32627353)
- Abdominal pain (HP:0002027, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 3/3. (PMID:32627353;PMID:32813957)
- Coma (HP:0001259, a Human Phenotype Ontology term): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: PCS. Frequency: 1/1. (PMID:32813957)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 2/2. (PMID:32627353)
These phenotypes are associated with the disease encephalopathy, acute transient (OMIM:620950, an entry in Online Mendelian Inheritance in Man).