The condition has usually been diagnosed based on the physical symptoms and confirmed by genetic testing. Methods have included whole exome sequencing and comparative genomic hybridization (for microdeletions). Sanger sequencing can confirm the nature of the mutation.
Okamoto syndrome
Yushō disease
Sanjad-Sakati syndrome
Satoyoshi syndrome
Mungan syndrome
Pashayan syndrome
Nakajo syndrome
Abruzzo–Erickson syndrome