Individuals with KAT6B disorders, Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)) generally have developmental delay (delay in learning skills compared to other children), hypotonia (low muscle tone), delays in speech, feeding difficulties, and can have some malformations (heart, kidneys (renal cysts or hydronephrosis), eyes (small palpebral fissures), skeletal (small kneecap, contractures of knees and hips), genital organs, etc).
KAT6B