Phenotypes associated with the disease multiple pterygium-malignant hyperthermia syndrome (OMIM:217150):
- Malignant hyperthermia (HP:0002047): Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. Evidence: IEA. (OMIM:217150)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: IEA. (OMIM:217150)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:217150)
- Abnormal mandible morphology (HP:0000277): Any abnormality of the mandible, the bone of the lower jaw. Evidence: IEA. (OMIM:217150)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: IEA. (OMIM:217150)
- 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: IEA. (OMIM:217150)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: IEA. (OMIM:217150)