Term Name: Raynaud-Claes syndrome
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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked dominant disease