Term Name: | X-linked intellectual disability-psychosis-macroorchidism syndrome |
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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 |
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. |
Ontology: | Human Disease [DOID:0060827] ( DOID:0060827 ) |