Timothy syndrome (Q3508705)

From Wikidata
Jump to navigation Jump to search
An autosomal dominant disease 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.
  • long QT syndrome 8
  • LQT8
  • Long QT syndrome-syndactyly syndrome
  • TIMOTHY SYNDROME; TS
  • TIMOTHY SYNDROME
  • TS
  • Long QT syndrome type 8
  • Long Qt Syndrome With Syndactyly
  • obsolete Timothy syndrome
edit
Language Label Description Also known as
English
Timothy syndrome
An autosomal dominant disease 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.
  • long QT syndrome 8
  • LQT8
  • Long QT syndrome-syndactyly syndrome
  • TIMOTHY SYNDROME; TS
  • TIMOTHY SYNDROME
  • TS
  • Long QT syndrome type 8
  • Long Qt Syndrome With Syndactyly
  • obsolete Timothy syndrome

Statements

0 references
0 references
0 references
0 references
0 references
C142894
0 references
Timothy syndrome
0 references

Identifiers

0 references
 
edit
    edit
      edit
        edit
          edit
            edit
              edit
                edit