Timothy syndrome
A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33. [ http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Timothy syndrome
lschriml
2011-11-08T12:52:33Z
DOID:0110649
disease_ontology
DOID:0060173