Rare Disease Day
Across
- 5. Deficiency of the enzyme alpha-D-mannosidase
- 6. Group of rare congenital syndromes with little or no immune responses
- 7. Group of related disorders caused by different genetic defects in collagen
Down
- 1. Disorder caused by acute, delayed, or chronic–produced by exposure to ionizing radiation
- 2. Carbohydrate metabolism disorder that affects the body’s ability to convert galactose to glucose
- 3. Dominantly inherited disorder of skeletal muscle that predisposes susceptible individuals to a life-threatening adverse reaction upon exposure to potent volatile anaesthetics and the skeletal muscle relaxant succinylcholine
- 4. Skin disease caused by a mutation in the cathepsin C gene; characterised by thick finger and toenails