Phenotypes and genetic testing results in the 3 families. Pedigree of (A) family 1, (B) father of patient 1 as child (age 1 year) and adult (32 years), (C) patient 1 (age 9 months), and (D) multiplex ligation-dependent probe amplification. Pedigree of the (F) family, (E) patient 2 (age 3.8 years), (G) electropherogram, (H) patient 2 (age 4 years), and (I) patient 2 (age 8 years). Pedigree of (J) family 3, (K) electropherogram of patient 3 and heterozygous affected relatives (I-2, I-3, II-1, II-2), and (L) patient 3 and her brother.