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Disease Ontology Browser
Raynaud-Claes syndrome (DOID:0112060)
Alliance: disease page
Synonyms: MRX15; MRX49; MRXSRC; X-linked mental retardation 15; X-linked mental retardation 49
Alt IDs: OMIM:300114
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory