|
|
Disease |
|
Also Known as |
|
|
L2 Hydroxyglutaric
Aciduria
|
 |
L-2-HGA |
|
|
Lactic Acidosis |
|
|
|
|
Lafora Body Disease |
|
Progressive Myoclonic Epilepsy Type 2 |
|
|
Laurence Moon
Syndrome |
|
Laurence Syndrome |
|
|
Leber Congenital
Amaurosis |
|
Congenital Retinitis
Pigmentosa |
|
|
Leber Hereditary
Optic Neuroretinopathy |
|
LHON |
|
|
Lecithin Cholesterol
Acyl Transferase Deficiency |
|
LCAT
/ Fish-eye Disease
|
|
|
Leigh Disease
|
|
Subacute Necrotising
Encephalomyopathy |
|
|
Lennox-Gastaut
Syndrome |
|
LGS
|
|
|
Leprechaunism
|
|
Donohue Syndrome |
|
|
Leptin Deficiency |
|
|
|
|
Leptin Receptor
Defects |
|
|
|
|
Lesch-Nyhan Disease |
|
|
|
|
Leukocyte Adhesion
Deficiency Syndrome Type II |
|
Congenital Disorders of Glycosylation Type IIc |
|
|
Leukodystrophy –
General |
|
|
|
|
Leukoencephalopathy |
|
|
|
|
Leukotriene
C4-Synthesis Deficiency |
|
LTC4
Synthase Deficiency |
|
|
Ligneous
Conjunctivitis |
|
|
|
|
Limb Girdle Muscular
Dystrophy |
|
Proximal Muscular
Dystrophy
|
|
|
Lipid Storage
Disease - General |
|
|
|
|
Lipoamide
Dehydrogenase Deficiency |
|
Maple
Syrup Disease Type II |
|
|
Lipodystrophy –
General |
|
|
|
|
Lipodystrophy -
Barraquer-Simons Disease |
|
Progressive Lipodystrophy |
|
|
Lipodystrophy - Berardinelli-Seip
Syndrome |
|
Congenital Generalised
Lipodystrophy |
|
|
Lipodystrophy - Centrifugal Form |
|
Localised
Lipodystrophy |
|
|
Lipodystrophy - Dunnigan Form |
|
Familial Partial
Lipodystrophy |
|
|
Lipodystrophy - Kobberling Form |
|
Familial Partial
Lipodystrophy |
|
|
Lipodystrophy - Lawrence Syndrome |
|
Acquired Generalised Lipodystrophy |
|
|
Lipodystrophy - Mandibuloacral
Dysplasia |
|
Craniomandibular
Dermatodysostosis |
|
|
Lipodystrophy - Membranous
Form |
|
Nasu-Hakola Disease |
|
|
Lipodystrophy - Mesenteric
Form |
|
Whipple Disease |
|
|
Lipodystrophy - PPARG Mutation |
|
Familial Partial
Lipodystrophy |
|
|
Lipoprotein Lipase
Deficiency |
|
Hyperchylomicronaemia Hyperlipoproteinaemia Type I |
|
|
Loken-Senior
Syndrome |
|
Senior-Loken
Syndrome |
|
|
Long Chain 3
Hydroxyacyl CoA Dehydrogenase Deficiency
|
|
LCHADD |
|
|
Long Chain acyl CoA
Dehydrogenase Deficiency
|
|
LCADD |
|
|
Lowe Syndrome |
|
Oculocerebrorenal Syndrome |
|
|
Lymphedaemia |
|
Milroy Disease |
|
|
Lysine Deficiency |
|
|
|
|
Lysinuric Protein
Intolerance |
|
LPI
|
|
|
Lysosomal Storage
Disease - General |
|
LSD's |
