Catalase Deficiency
Cobalamin Malabsorption
Pyruvate Kinase Deficiency
Congenital Stationary Night Blindness
Primary Open Angle Glaucoma (POAG)
Degenerative Myelopathy
Neonatal Cerebellar Cortical Degeneration (NCCD)
Factor VII
Musladin-Lueke Syndrome (MLS)