Search Ontology:
Human Disease

Raynaud-Claes syndrome

Term ID
DOID:0112060
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. (4)
References
Ontology
Human Disease   ( DOID:0112060 )
Relationships
is a type of
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Genes Involved
Zebrafish Models