non-syndromic X-linked intellectual disability 1 (DOID:0112038)
Alliance: disease page
Synonyms: MRX1; MRX18; MRX78; X-linked mental retardation 1; X-linked mental retardation 1/78; X-linked mental retardation 18; X-linked mental retardation 78
Alt IDs: OMIM:309530
Definition: A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.