Search Ontology:
Human Disease
Raynaud-Claes syndrome
- Term ID
- DOID:0112060
- Synonyms
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- 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. (4)
- References
- Ontology
- Human Disease ( DOID:0112060 )
- is a type of
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Genes Involved
Zebrafish Models