Main clinical features
Common comorbidities include brain abnormalities, obesity, and behavioral problems.
Facial dysmorphisms are minor and include a long chin, broad nasal tip, and upslanting palpebral fissures.
Thus far, approximately 35 patients have been described with deletions or mutations affecting the MYT1L gene, making it a rare condition.
The inheritance pattern is autosomal dominant. Most mutations arose de novo.