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Human Disease

X-linked intellectual disability-psychosis-macroorchidism syndrome

Term ID
DOID:0060827
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. (2)
References
Ontology
Human Disease   ( DOID:0060827 )
Relationships
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Genes Involved
Zebrafish Models