| Metadata | |
|---|---|
| ID | DOID:0060827 |
| Name | X-linked intellectual disability-psychosis-macroorchidism syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10986043, https://www.ncbi.nlm.nih.gov/pubmed/8651288 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Lindsay-Burn syndrome [EXACT] mental retardation with psychosis, pyramidal signs, and macroorchidism [EXACT] mental retardation, X-linked, syndromic 13 [EXACT] MRXS13 [EXACT] PPM-X [EXACT] X-linked mental retardation 79 [EXACT] X-linked mental retardation with spasticity [EXACT] |
| Parent Relationships |