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Metadata
ID DOID:0112060
Name Raynaud-Claes syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/23647072/, https://pubmed.ncbi.nlm.nih.gov/8826458/, https://pubmed.ncbi.nlm.nih.gov/27550844/, https://pubmed.ncbi.nlm.nih.gov/9415477/
Xrefs

MIM:300114
Synonyms

MRX15 [EXACT]

MRX49 [EXACT]

MRXSRC [EXACT]

X-linked mental retardation 15 [EXACT]

X-linked mental retardation 49 [EXACT]
Parent Relationships

is_a X-linked dominant disease

is_a syndromic X-linked intellectual disability
Subclass Logical Relationships

has material basis in some X-linked dominant inheritance

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