- 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: TAS. (OMIM:272120)
- Apneic episodes in infancy (HP:0005949): Recurrent episodes of apnea occurring during infancy. Evidence: TAS. (OMIM:272120)
- 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: TAS. (OMIM:272120)
- Non-Mendelian inheritance (HP:0001426): A mode of inheritance that depends on genetic determinants in more than one gene. Evidence: TAS. (OMIM:272120)
- Sudden death (HP:0001699): Rapid and unexpected death. Evidence: TAS. (OMIM:272120)
These phenotypes are associated with the disease Sudden infant death syndrome (OMIM:272120).