<unk>  is caused by a heterozygous mutation on the KCNK9 gene. Therefore, doctors and geneticists generally rely on DNA testing such as whole-exome sequencing to identify the location of the mutation and diagnose the disease. Because<unk>  is autosomal dominant with paternal imprinting, family members are also tested and their genomes are sequenced.
Birk-Barel syndrome
Halperin-Birk syndrome
Hurler syndrome
Hecht Scott syndrome
Kindler syndrome
Smith Martin Dodd syndrome
Baboon syndrome
Pelger–Huët anomaly