non-syndromic X-linked intellectual disability 30 (DOID:0112051)
Alliance: disease page
Synonyms: MRX30; MRX47; X-linked mental retardation 30; X-linked mental retardation 30/47; X-linked mental retardation 47
Alt IDs: OMIM:300558
Definition: A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.