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

• MIM:300114

Ontology

Human Disease   ( DOID:0112060 )