Timothy syndrome

Genetics

• associated with defects in CACNA1C

Clinical manifestations

• multiorgan dysfunction
• congenital heart disease
• lethal arrhythmias
• webbing of fingers & toes
• immune deficiency
• intermittent hypoglycemia,
• cognitive impairment
• autism

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/601005