X-linked intellectual disability-psychosis-macroorchidism syndrome

Summary

DOID:0060827 - X-linked intellectual disability-psychosis-macroorchidism syndrome

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mecp2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010235 - X-linked intellectual disability-psychosis-macroorchidism syndrome

MONDO:0010235 - X-linked intellectual disability-psychosis-macroorchidism syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a)