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MYT1L

Professionals

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.

Prevalence

Thus far, approximately 35 patients have been described with deletions or mutations affecting the MYT1L gene, making it a rare condition.

Inheritance

The inheritance pattern is autosomal dominant. Most mutations arose de novo.