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L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency
see
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
L1 syndrome
Lacunar Dementias
see
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Laing distal myopathy
LAL deficiency
see
Wolman disease
Late-onset biotin-responsive multiple carboxylase deficiency
see
biotinidase deficiency
Late-onset multiple carboxylase deficiency
see
biotinidase deficiency
Late-onset spondyloepiphyseal dysplasia
see
X-linked spondyloepiphyseal dysplasia tarda
LCHAD deficiency
see
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Le Merrer syndrome
see
3-M syndrome
Learning Disorders
Leber hereditary optic neuropathy
leiomyomatosis and renal cell cancer
see
hereditary leiomyomatosis and renal cell cancer
Lentiginosis, Perioral
see
Peutz-Jeghers syndrome
Lenz microphthalmia syndrome
Lesch-Nyhan syndrome
Leukodystrophies
see
Alexander disease
;
Canavan disease
;
Krabbe disease
;
leukoencephalopathy with vanishing white matter
;
megalencephalic leukoencephalopathy with subcortical cysts
;
metachromatic leukodystrophy
;
Pelizaeus-Merzbacher disease
;
X-linked adrenoleukodystrophy
Leukodystrophy, spongiform
see
Canavan disease
leukodystrophy with Rosenthal fibers
see
Alexander disease
leukoencephalopathy with swelling and a discrepantly mild course
see
megalencephalic leukoencephalopathy with subcortical cysts
leukoencephalopathy with swelling and cysts
see
megalencephalic leukoencephalopathy with subcortical cysts
leukoencephalopathy with vanishing white matter
Lewy Body Disease
see
Parkinson disease
LFS
see
Li-Fraumeni syndrome
LHON
see
Leber hereditary optic neuropathy
Li-Fraumeni syndrome
lip-pit syndrome
see
van der Woude syndrome
LIPA deficiency
see
Wolman disease
Lipase D deficiency
see
familial lipoprotein lipase deficiency
LIPD deficiency
see
familial lipoprotein lipase deficiency
Lipid Metabolism, Inborn Errors
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency
see
short-chain acyl-coenzyme A dehydrogenase deficiency
lipid transport defect of intestine
see
chylomicron retention disease
lipodystrophy, congenital generalized
see
Berardinelli-Seip congenital lipodystrophy
lipoid histiocytosis (classical phosphatide)
see
Niemann-Pick disease
Lipoid histiocytosis (kerasin type)
see
Gaucher disease
Lipoprotein Deficiency Disease, HDL, Familial
see
Tangier disease
Lipoprotein Lipase Deficiency, Familial
see
familial lipoprotein lipase deficiency
Liposomal Acid Lipase Deficiency, Wolman Type
see
Wolman disease
lissencephaly and agenesis of corpus callosum
see
X-linked lissencephaly
lissencephaly type 1
see
X-linked lissencephaly
lissencephaly, X-linked
see
X-linked lissencephaly
LISX
see
X-linked lissencephaly
Liver Disease
Liver form of carnitine palmitoyltransferase deficiency
see
carnitine palmitoyltransferase I deficiency
LNS
see
Lesch-Nyhan syndrome
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Long QT Syndrome
Long QT syndrome 7
see
Andersen-Tawil syndrome
Long QT syndrome with syndactyly
see
Timothy syndrome
Lou Gehrig Disease
see
amyotrophic lateral sclerosis
Louis-Bar syndrome
see
ataxia-telangiectasia
Lowe syndrome
Lower motor neuron degeneration with Paget-like bone disease
see
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
LPI
see
lysinuric protein intolerance
LQT7
see
Andersen-Tawil syndrome
LQT8
see
Timothy syndrome
LRCC
see
hereditary leiomyomatosis and renal cell cancer
Lubag
see
X-linked dystonia-parkinsonism
Lundborg-Unverricht syndrome
see
Unverricht-Lundborg disease
Lung Diseases
LVM
see
megalencephalic leukoencephalopathy with subcortical cysts
Lymphatic Diseases
Lymphedema
lymphedema-distichiasis syndrome
lymphedema with distichiasis
see
lymphedema-distichiasis syndrome
Lynch syndrome
lysinuric protein intolerance
Lysosomal acid lipase deficiency
see
Wolman disease
Lysosomal alpha-1,4-glucosidase deficiency
see
Pompe disease
lysosomal alpha B mannosidosis
see
alpha-mannosidosis
lysosomal alpha-D-mannosidase deficiency
see
alpha-mannosidosis
lysosomal beta A mannosidosis
see
beta-mannosidosis
lysosomal beta-mannosidase deficiency
see
beta-mannosidosis
Published: January 23, 2009