In short, cerebellar atrophy for SPTAN1 [13], hypoplasia of the corpus callosum, hypoplasia of the 5th finger nail, hypertrichosis, sparse scalp hair and aggressive behavior for SMARCE1 [21], truncal obesity and short stature for LAS1L [16], myoclonic atonic seizures for SLC6A1 [15], aggressive behavior for SYNGAP1 [17], dysmorphic features and dental anomalies for ASXL3 [14] and aggressive behavior and dental anomalies for SATB2 [19] (Fig 1). The gene discussed is SLC6A1; the disease is Cerebellar atrophy.