Table 1.
Characteristic | N or range and mean |
---|---|
Age of participant | 25–49 years; mean = 39 years |
Sex of participant | |
Female | 13 |
Male | 7 |
Age of child | 10 months–18 years; mean = 10 years; 2 children were deceased |
Gender of child | |
Female | 8 |
Male | 13 |
Condition type | |
Neurological | 6 |
Intellectual disability/ developmental delay | 5 |
Metabolic | 3 |
Mitochondrial | 2 |
Endocrine | 2 |
Cardiovascular | 1 |
Dermatological | 1 |
Primary ciliary disorder | 1 |
Diagnosis with unknown genetic aetiology | |
‘Working diagnosis’ | 13 |
None | 8 |
One parent had two children enrolled in the study.