Variants of ACTB have been associated with three neurological disorders, including Baraitser–Winter syndrome 1 (BRWS1 (MIM: 243310)), dystonia-deafness syndrome 1 (DDS1 (MIM: 607371)), and thrombocytopenia 8 (THC8), with dysmorphic features and developmental delay (MIM: 620475). The gene discussed is ACTB; the disease is nervous system disorder.