Main Clinical Features
The MORC2 neurodevelopmental disorder is a multisystem disorder characterized by developmental delay, growth failure, microcephaly and variable craniofacial dysmorphism. Neuropathy, hearing loss, and retinopathy have been described in some individuals.
Prevalence
The prevalence of the MORC2 neurodevelopmental disorder has not been ascertained, as it is a newly described disorder with a limited number of cases so far.
Inheritance
MORC2 neurodevelopmental disorder is inherited in an autosomal dominant manner, with most cases reported to date presenting de novo.
Molecular characteristics
Pathogenic variants cluster in the ATPase Module of MORC2 (aa 1-494).