syndromic X-linked intellectual disability Pilorge type (DOID:0070422)
Alliance: disease page
Synonyms: MRXSP
Alt IDs: OMIM:301076
Definition: A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.