Intellectual disability, X-linked 102
Intellectual disability, X-linked 102
Definition
An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.
Also known as DDX3X non-syndromic X-linked intellectual disability, intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant, intellectual disability, X-linked 102, intellectual disability, X-linked type 102, mental retardation, X-linked type 102, non-syndromic X-linked intellectual disability caused by mutation in DDX3X — per MONDO