The MYH10-related disorder is an autosomal dominant condition characterized by a broad spectrum of issues including neurodevelopmental disorders and multisystem congenital anomalies. There is variable expressivity with this disorder including individuals who are mildly affected to those with more profound neurodevelopmental impairment. Moreover, a broad spectrum of congenital anomalies have been observed affecting most organ systems with the most common defects involving the heart and brain. Variants involving MYH10 have also been associated with cranial dysinnervation disorders as well as ptosis and ocular colobomas without the findings of neurodevelopmental impairment. Dysmorphic features may also be present with the primary finding of hypertelorism. The MYH10-related disorder is inherited in an autosomal dominant fashion and while most variants are de novo, there are reports of inheritance from a mildly affected parent.
MYH10