While Gad67−/− mice have been reported to die within the first hours of life due to a cleft palate (Asada et al., 1997; Condie et al., 1997), only one of our patients (Family E, Patient III-3) was born with a cleft palate (the same patient also showed congenital bilateral hip dislocation with shallow acetabulum, talipes equinovarus and hearing impairment). Here, GAD1 is linked to hearing loss disorder.