Fig. 1: Ethnicity and inheritance patterns in patients tested.

a Distribution of Ethnicity in patients who underwent R14 and in those with a molecular diagnosis. Green bar: number of patients who underwent R14 in each ethnic group. Light blue bar: number of patients where molecular diagnosis was reached in each ethnic group. b Breakdown of inheritance patterns by ethnicity. Green bar indicates AD, Autosomal dominant; Blue bar indicates AR, Autosomal recessive; Yellow bar indicates X-linked condition.