Intellectual disability, X-linked 1
Intellectual disability, X-linked 1
Definition
An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.
Also known as intellectual developmental disorder, X-linked 1, X-linked dominant, intellectual disability, X-linked 1, IQSEC2-related disorder, IQSEC2-related syndromic intellectual disability, mental retardation, X-linked 1, mental retardation, X-linked 18, mental retardation, X-linked 78, mental retardation, X-linked type 1, MRX, MRX1, MRX78 — per MONDO