Term Name: | Raynaud-Claes syndrome |
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Synonyms: | MRX15, MRX49, MRXSRC, X-linked mental retardation 15, X-linked mental retardation 49 |
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. |
Ontology: | Human Disease [DOID:0112060] ( DOID:0112060 ) |