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X-linked intellectual disability-psychosis-macroorchidism syndrome
Summary
- Synonym
-
- Lindsay-Burn syndrome
- MRXS13
- PPM-X
- X-linked mental retardation 79
- X-linked mental retardation with spasticity
- mental retardation with psychosis, pyramidal signs, and macroorchidism
- mental retardation, X-linked, syndromic 13
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060827
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
