Andermann syndrome (Charlevoix' disease)

Genetics

• mutation in gene for solute carrier family 12 member 6

More general terms

• inborn error of metabolism

Additional terms

• solute carrier family 12 member 6; electroneutral K+-chloride cotransporter 3; K-Cl cotransporter 3 (SLC12A6, KCC3)
• spastic ataxia of Charlevoix-Saguenay

Database

• OMIM: https://mirror.omim.org/entry/218000