Raynaud-Claes syndrome

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, bra

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.

Signs and symptoms

• Dystonia
• Focal impaired awareness seizure
• Hypotonia
• Microcephaly
• Hypoplasia of the corpus callosum
• Global developmental delay
• Epileptic encephalopathy
• Mild intellectual disability
• Seizure
• Lower limb spasticity

Also known as: MRX15; MRX49; MRXSRC; X-linked mental retardation 15; X-linked mental retardation 49