- Axial hypotonia (HP:0008936, a Human Phenotype Ontology term): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: PCS. Frequency: 1/12. (PMID:33236446)
- 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: 4/11. (PMID:33236446)
- Dystonia (HP:0001332, a Human Phenotype Ontology term): 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: PCS. Frequency: 12/12. (PMID:33236446)
- Axial dystonia (HP:0002530, a Human Phenotype Ontology term): A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. Evidence: PCS. Frequency: 3/12. (PMID:33236446)
- 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: 3/12. (PMID:33236446)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 1/12. (PMID:33236446)
- Limb dystonia (HP:0002451, a Human Phenotype Ontology term): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. Evidence: PCS. Frequency: 9/12. (PMID:33236446)
- Neonatal seizure (HP:0032807, a Human Phenotype Ontology term): A seizure occurring within the neonatal period (28 days beyond the full term date). Evidence: PCS. Frequency: 1/12. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:33236446)
- 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: 2/12. (PMID:33236446)
- Early young adult onset (HP:0025708, a Human Phenotype Ontology term): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/11. (PMID:33236446)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 6/11. (PMID:33236446)
- 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: 2/12. (PMID:33236446)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:33236446)
- 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: 1/12. (PMID:33236446)
- Vertical supranuclear gaze palsy (HP:0000511, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/12. (PMID:33236446)
These phenotypes are associated with the disease dystonia 33 (OMIM:619687, an entry in Online Mendelian Inheritance in Man).