Syndromic X-linked intellectual disability 12
Syndromic X-linked intellectual disability 12
Definition
X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.
Also known as intellectual disability, X-linked, syndromic 12, mental retardation, X-linked, syndromic 12, syndromic X-linked intellectual disability type 12, X-linked intellectual disability, Wilson type — per MONDO