Fig. 4.

Relative number of patients, by genotype and mode of inheritance of the disease, in our cohort vs. similar studies in other populations. Data from this work (Portugal) are compared with those from three other large studies from the United Kingdom (12), the United States (7), and Korea (10). Our genotypes are enriched in homozygous and reduced in compound heterozygous recessive mutations. AR-hom, autosomal recessive inheritance, mutation in homozygosis; AR-comp het, autosomal recessive inheritance, mutations in compound heterozygosity; AD-het, autosomal dominant inheritance, mutation in heterozygosis; XL-hemi, X-linked inheritance, mutation in hemizygosis (in males).