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L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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L1 syndrome
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Lacunar Dementias see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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LAL deficiency see Wolman disease
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Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
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Late-onset multiple carboxylase deficiency see biotinidase deficiency
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Late-onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda
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LCHAD deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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Le Merrer syndrome see 3-M syndrome
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Learning Disorders
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Leber hereditary optic neuropathy
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leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
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Lentiginosis, Perioral see Peutz-Jeghers syndrome
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Lenz microphthalmia syndrome
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Lesch-Nyhan syndrome
- Leukodystrophies see Alexander disease; Canavan disease; Krabbe disease; leukoencephalopathy with vanishing white matter; metachromatic leukodystrophy; Pelizaeus-Merzbacher disease; X-linked adrenoleukodystrophy
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Leukodystrophy, spongiform see Canavan disease
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leukodystrophy with Rosenthal fibers see Alexander disease
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leukoencephalopathy with vanishing white matter
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Lewy Body Disease see Parkinson disease
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LFS see Li-Fraumeni syndrome
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LHON see Leber hereditary optic neuropathy
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Li-Fraumeni syndrome
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lip-pit syndrome see van der Woude syndrome
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LIPA deficiency see Wolman disease
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Lipase D deficiency see familial lipoprotein lipase deficiency
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LIPD deficiency see familial lipoprotein lipase deficiency
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Lipid Metabolism, Inborn Errors
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lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
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Lipoid histiocytosis (kerasin type) see Gaucher disease
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Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
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Lipoprotein Lipase Deficiency, Familial see familial lipoprotein lipase deficiency
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Liposomal Acid Lipase Deficiency, Wolman Type see Wolman disease
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lissencephaly and agenesis of corpus callosum see X-linked lissencephaly
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lissencephaly type 1 see X-linked lissencephaly
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lissencephaly, X-linked see X-linked lissencephaly
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LISX see X-linked lissencephaly
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Liver Disease
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Liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
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LNS see Lesch-Nyhan syndrome
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long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
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Long QT Syndrome
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Long QT syndrome 7 see Andersen-Tawil syndrome
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Long QT syndrome with syndactyly see Timothy syndrome
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Lou Gehrig Disease see amyotrophic lateral sclerosis
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Louis-Bar syndrome see ataxia-telangiectasia
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Lowe syndrome
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LPI see lysinuric protein intolerance
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LQT7 see Andersen-Tawil syndrome
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LQT8 see Timothy syndrome
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LRCC see hereditary leiomyomatosis and renal cell cancer
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Lundborg-Unverricht syndrome see Unverricht-Lundborg disease
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Lung Diseases
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Lymphatic Diseases
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Lymphedema
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lymphedema-distichiasis syndrome
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lymphedema with distichiasis see lymphedema-distichiasis syndrome
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Lynch syndrome
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lysinuric protein intolerance
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Lysosomal acid lipase deficiency see Wolman disease
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Lysosomal alpha-1,4-glucosidase deficiency see Pompe disease
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lysosomal alpha B mannosidosis see alpha-mannosidosis
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lysosomal alpha-D-mannosidase deficiency see alpha-mannosidosis
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lysosomal beta A mannosidosis see beta-mannosidosis
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lysosomal beta-mannosidase deficiency see beta-mannosidosis
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