 GABRB3 deficiencies are implicated in many human neurodevelopmental disorders and syndromes such as Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism.The effects of methaqualone and etomidate are mediated through GABBR3 positive allosteric modulation.The GABRB3 gene is located on the long arm of chromosome 15, within the q12 region in the human genome.