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,

Echinobase Genes :


OMIM:

MIM:300055 - mental retardation, x-linked, syndromic 13; mrxs13 mental retardation, x-linked 79; mrx79;; mental retardation, x-linked 16; mrx16;; mental retardation, x-linked, with spasticity;; mental retardation with psychosis, pyramidal signs, and macroorchidism; ppm

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

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