Clinical features
Individuals with MORC2 neurodevelopmental disorder have a combination of distinct features that most frequently include developmental delay, short stature and a small head circumference (microcephaly). Many individuals have mild intellectual disability, although some are more severely affected and are limited in both their mobility and their ability to communicate and interact with others.

In some cases, affected individuals have a facial appearance that distinguishes them from other family members. These facial differences are many times subtle and include a long face with a narrow jaw, deep set eyes and a prominent nose.

Other individuals also have weakness, hearing loss, changes on their brain imaging, and eye problems.

Most of these features are not obvious at birth but develop in time.

In most cases, the changes that cause MORC2 neurodevelopmental disorder appear in the child only (de novo). In rare cases, they are inherited from a parent with mild features.