Barts and The London, School of Medicine and Dentistry

These questions are applied to the following diseases in differing amounts of detail: Duchenne muscular dystrophy, Haemophilia A, X-linnked severe combined immune deficiency disorder, congenital deafness, Retinitis pigmentosa, Chondroplasia punctata, Hypophosphataemic rickets, Cystic fibrosis, Tay-Sachs, Haemachromatosis, Phenylketonuria,.Huntingdons disease, Achondroplasia, polycystic kidney, Fragile X mental retardation, Alzheimer’s disease, Down’s syndrome, Acquired uniparental disomy, Reigar syndrome, Preaxial polydactyly


This learning outcome is a primary level outcome.


This learning outcome is taught in the following sessions: