Figure 1.

Overview of study cohort and distribution of inheritance pattern subgroups. (A) Cohort overview. Field cohort: participants completed questionnaires and the study team reviewed their medical records. 32 field cohort participants were also members of clinic cohort families. Clinic cohort: participants evaluated by specialists at the National Institutes of Health Warren G. Magnuson Clinical Center. (B) Schematic depiction of the distribution of inheritance pattern in the 231 study subjects. AD, autosomal dominant inheritance; AR, autosomal recessive inheritance; XLR, X-linked recessive inheritance; TINF2, TINF2 heterozygotes.