Few cases with MAST1 mutations have been reported with atypical presentations, such as absence of cerebellar hypoplasia, predominant bilateral polymicrogyria, dysmorphic features, short stature, epileptic encephalopathy, and hypogonadotropic hypogonadism [47,48,49,50]. The gene discussed is MAST1; the disease is hypogonadotropic hypogonadism.