|
General Information
|
| Term |
Raynaud-Claes syndrome |
ID (Ontology) |
DOID:0112060 (Human Disease) |
| 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. |
| Also Known As |
"MRX15" ; "MRX49" ; "MRXSRC" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
Raynaud-Claes syndrome | 1 | for disease ribbon | Raynaud-Claes syndrome | 1 | model of | Raynaud-Claes syndrome | 1 |
|
Relationships