syndromic X-linked intellectual disability Lubs type (DOID:0060799)
Alliance: disease page
Synonyms: Lubs X-linked mental retardation syndrome; MECP2 duplication syndrome; mental retardation, X-linked, syndromic, Lubs type; mental retardation, X-linked, with recurrent respiratory infections; MRXSL; X-linked intellectual disability-hypotonia-recurrent Infections syndrome
Alt IDs: OMIM:300260, MESH:C537723, NCI:C126747, ORDO:85281, UMLS_CUI:C1846058
Definition: A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.