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DOID:0112042 - Tonne-Kalscheuer syndrome
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.
Synonyms: MRX61, TOKAS, X-linked mental retardation 61, intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia,
Xenbase Genes
:
rlim
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee