ZFIN Human Disease: Raynaud-Claes syndrome

OBO ID: DOID:0112060

Term Name:	Raynaud-Claes syndrome		Search Ontology:
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:	OMIM:300114
Ontology:	Human Disease ( DOID:0112060 )

Relationships

is a type of:	syndromic X-linked intellectual disability X-linked dominant disease syndromic X-linked intellectual disability X-linked dominant disease Show first 5 Terms

OTHER Raynaud-Claes syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CLCN4	clcn4	Raynaud-Claes syndrome	300114

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None