Phenotypes associated with the disease dystonia 27 (OMIM:616411):
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 5/5. (PMID:26004199)
- Action tremor (HP:0002345): A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. Evidence: PCS. Frequency: 1/5. (PMID:26004199)
- Writer's cramp (HP:0002356): A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. Evidence: PCS. Frequency: 4/5. (PMID:26004199)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/5. (PMID:26004199)
- Limb dystonia (HP:0002451): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. Evidence: PCS. Frequency: 2/5. (PMID:26004199)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/5. (PMID:26004199)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: PCS. Frequency: 2/5. (PMID:26004199)
- Autosomal recessive inheritance (HP:0000007): 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:26004199)
- Oromandibular dystonia (HP:0012048): A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. Evidence: PCS. Frequency: 3/5. (PMID:26004199)
- Laryngeal dystonia (HP:0012049): A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. Evidence: PCS. Frequency: 2/5. (PMID:26004199)