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DOID:0112060 - Raynaud-Claes syndrome
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.
Synonyms: MRX15, MRX49, MRXSRC, X-linked mental retardation 15, X-linked mental retardation 49
Xenbase Genes
:
clcn4
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee