Affected individual | Sex | Age | Symptoms | Mutation |
---|---|---|---|---|
Great-grandmother (individual I:2) | Female | Deceased | Both hands were classified as post-axial polydactyly type B | – |
Granduncle (individual II:2) | Male | 56 years | Both hands were classified as post-axial polydactyly type B | – |
Grandfather (individual II:6) | Male | 54 years | Both hands were classified as post-axial polydactyly type B | c.[1622C > T];p.[(Thr541Met)] |
Father (individual III:2) | Male | 34 years | Left hand was classified as post-axial polydactyly type B | c.[1622C > T];p.[(Thr541Met)] |
Patient (individual IV:1) | Male | 2 years | Right hand was classified as post-axial polydactyly, left hand had cutaneous webbing between the 3rd and 4th fingers, left foot had a well-formed digit on the fibular aspect. | c.[1622C > T];p.[(Thr541Met)] |