ID | Sex | Age (years) | Height (inch) | SD | Variant | Mobility | GnomAD frequency | Mutation Assessor | Revel Scoreb |
---|---|---|---|---|---|---|---|---|---|
Family SND-65 | |||||||||
IV:3 | F | 15 | 44 | -8.7 | c.590T>C;p.(Leu197Pro) | Unable to walk and stand | N/A | 0.821 | .909 |
IV:6 | M | 13 | 39 | -7.7 | c.590T>C;p.(Leu197Pro) | Unable to walk and stand | N/A | 0.821 | .909 |
IV:7 | F | NAa | NAa | NA | c.590T>C;p.(Leu197Pro) | Unable to walk and stand | N/A | 0.821 | .909 |
IV:11 | M | NAa | NAa | NA | c.590T>C;p.(Leu197Pro) | Unable to walk and stand | N/A | 0.821 | .909 |
Family SND-17 | |||||||||
III:4 | F | 17 | NAa | NA | c.603C>A;p.(Tyr201Ter) | Unable to walk and stand | N/A | N/A | N/A |
III:6 | F | 14 | NAa | NA | c.603C>A;p.(Tyr201Ter) | Unable to walk and stand | N/A | N/A | N/A |
III:7 | M | 15 | NAa | NA | c.603C>A;p.(Tyr201Ter) | Unable to walk and stand | N/A | N/A | N/A |
III:8 | M | 10 | NAa | NA | c.603C>A;p.(Tyr201Ter) | Unable to walk and stand Frequent fractures | N/A | N/A | N/A |
III:9 | M | 7 | NAa | NA | c.603C>A;p.(Tyr201Ter) | Unable to walk and stand | N/A | N/A | N/A |
Family NAD-05 | |||||||||
IV:1 | M | 25 | 44 | -8.7 | c.661C>T;p.(Arg221Cys) | Assisted walking | 0.00003188 | 2.85 | 0.936 |
IV:4 | F | 27 | 42 | -9.0 | c.661C>T;p.(Arg221Cys) | Walking with abnormal gait | 0.00003188 | 2.85 | 0.936 |