TUBGCP2 and neurodevelopmental disorder: Nevertheless, previous studies have demonstrated that the pathogenic TUBGCP2 variants lead to autosomal recessive neurodevelopmental disorder traits consisting of microcephaly, dysmorphic facial features (such as a characteristic narrow forehead, thick eyebrows, bulbous nose, prominent ears, and widened and separated teeth), and DD (including speech and motor delays), with or without seizures.