syndromic X-linked mental retardation Hough type (DOID:0080242)
Alliance: disease page
Alt IDs: OMIM:301008
Definition: A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.