. Author manuscript; available in PMC: 2020 Dec 15.

Published in final edited form as: Genet Med. 2020 May 19;22(8):1338–1347. doi: 10.1038/s41436-020-0811-8

Table 1.

Major clinical features suggestive of GPS and SBBYSS

Major features suggestive of GPS	Major features suggestive of SBBYSS
• Genital anomalies • Patellar hypoplasia/agenesis • Contractures at the hips, knees and/or clubfoot • Agenesis of the corpus callosum • Renal anomalies (hydronephrosis or multiple renal cysts)	• Long thumbs/great toes • Immobile mask-like face • Blepharophimosis and/or ptosis • Lacrimal duct anomalies • Patellar hypoplasia/agenesis

GPS: Genitopatellar syndrome/SBBYSS: Say-Barber-Biesecker-Young-Simpson syndrome

Adapted from Lemire G, Campeau PM, Lee BH. KAT6B Disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews((R)). Seattle (WA): University of Washington, Seattle University of Washington, Seattle.