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X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.
Uniprot Description A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Disease Ontology Description A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.
Mondo Term and Equivalent IDs
MONDO:0010473:  X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Orphanet:324410: 
UMLS:C3550913: