intellectual disability, X-linked 1

Rare Disease

MONDO:0010656

Also Known As

IQSEC2-related disorderIQSEC2-related syndromic intellectual disabilityMRXMRX1MRX78intellectual developmental disorder, X-linked 1, X-linked dominantintellectual disability, X-linked 1mental retardation, X-linked 1mental retardation, X-linked 18mental retardation, X-linked 78mental retardation, X-linked type 1IQSEC2IQSEC2-related epilepsyIQSEC2-related intellectual disabilityX-linked intellectual disability 1X-linked intellectual disability 1/78X-linked intellectual disability 78severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

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.