X-linked intellectual disability-psychosis-macroorchidism syndrome (DOID:0060827)
Alliance: disease page
Synonyms: Lindsay-Burn syndrome; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X; X-linked mental retardation 79; X-linked mental retardation with spasticity
Alt IDs: OMIM:300055, ICD10CM:F71.1, ORDO:3077
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.