- Chin myoclonus (HP:0012462): Involuntary and irregular twitches of the chin. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:53372)
- Abnormality of mentalis muscle (HP:3000007): An abnormality of a mentalis muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53372)
- Abnormal lower lip morphology (HP:0000178): An abnormality of the lower lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53372)
- Abnormal social behavior (HP:0012433): An abnormality of actions or reactions of a person exhibited during social interactions with other individuals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53372)
These phenotypes are associated with the disease Hereditary geniospasm (ORPHA:53372).
The following phenotypes are NOT associated with this disease:
- Intention tremor (HP:0002080): A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). Evidence: TAS. (ORPHA:53372)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. (ORPHA:53372)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. (ORPHA:53372)