- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: 20/20. (OMIM:114200)
- Increased urinary taurine (HP:0003166): Increased concentration of taurine in the urine. Evidence: TAS. (OMIM:114200)
- Joint subluxation (HP:0032153): A partial dislocation of a joint. Evidence: IEA. (OMIM:114200)
- Autosomal dominant inheritance (HP:0000006): 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: IEA. (OMIM:114200)
- Knee dislocation (HP:0004976). Evidence: IEA. (OMIM:114200)
These phenotypes are associated with the disease camptodactyly of fingers (OMIM:114200).