Genitopatellar syndrome is caused by a heterozygous mutation in the KAT6B gene and is characterized by patellar hypoplasia or agenesis, flexion contractures of the hips and knees, urogenital anomalies, developmental delay, hypotonia, and facial anomalies, including low-set ears and thin upper lip [16]. The gene discussed is KAT6B; the disease is Global developmental delay.