Category: AF

Primary Distonia – Most mutations

Alpha-1-Antitrypsin Deficit – Main Mutations

Mucopolysaccharidosis Type III A, Sanfilippo Syndrome type A

Spinal Muscular Atrophia, SMA (Types 1, 2, 3, 4)

Friedreich Atassia, FRDA

Familial Mediterranean Fever – Main Mutations

Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome

Spinocerebellar Ataxia Type 6

RETT Syndrome

Cystic Fibrosis – 34 mutations