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Summary Literature (0)
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, 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

Xenbase Genes : mecp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010235 - X-linked intellectual disability-psychosis-macroorchidism syndrome

OMIM:
OMIM:300055 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)