Human genes for Raynaud-Claes syndrome
Raynaud-Claes syndrome [DOID:0112060]
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 CLCN4 on chromosome Xp22.2.
Synonyms: Raynaud-Claes syndrome, DOID:0112060, RaynaudClaes syndrome, Raynaud-Claes disease, Raynaud-Claes disorder ...