- Dermatoglyphic ridges abnormal (HP:0005689). Evidence: IEA. (OMIM:211960)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: IEA. (OMIM:211960)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:211960)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:211960)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. (OMIM:211960)
- Small thenar eminence (HP:0001245): Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. Evidence: TAS. (OMIM:211960)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:211960)
- Small hypothenar eminence (HP:0010487): Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. Evidence: TAS. (OMIM:211960)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:211960)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:211960)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:211960)
- 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:211960)
- Abnormal dermatoglyphics (HP:0007477): An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. Evidence: TAS. (OMIM:211960)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: IEA. (OMIM:211960)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: IEA. (OMIM:211960)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. (OMIM:211960)
These phenotypes are associated with the disease Tel Hashomer camptodactyly syndrome (OMIM:211960).