| Metadata | |
|---|---|
| ID | DOID:0112060 |
| Name | Raynaud-Claes syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/23647072/, https://pubmed.ncbi.nlm.nih.gov/27550844/, https://pubmed.ncbi.nlm.nih.gov/8826458/, https://pubmed.ncbi.nlm.nih.gov/9415477/ |
| Xrefs | |
| Synonyms |
MRX15 [EXACT] MRX49 [EXACT] MRXSRC [EXACT] X-linked mental retardation 15 [EXACT] X-linked mental retardation 49 [EXACT] |
| Parent Relationships |