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L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
l-arginine:glycine aminidotransferase deficiency see arginine:glycine amidinotransferase deficiency
L1 syndrome
labile factor deficiency see factor V deficiency
lactate dehydrogenase deficiency
lactose intolerance
Lafora Disease see Lafora progressive myoclonus epilepsy
Lafora progressive myoclonus epilepsy
LAH see autosomal recessive hypotrichosis
Laing distal myopathy
LAL deficiency see Wolman disease
LAM see lymphangioleiomyomatosis
LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome see Carney complex
lamellar ichthyosis
LAMM syndrome see congenital deafness with labyrinthine aplasia, microtia, and microdontia
Landouzy-Dejerine Dystrophy see facioscapulohumeral muscular dystrophy
Landry-Guillain-Barre syndrome see Guillain-Barré syndrome
Langer-Giedion syndrome
Langer mesomelic dysplasia
Langerhans cell histiocytosis
LAPS syndrome see Myhre syndrome
Larsen syndrome
laryngotracheal stenosis, arthropathy, prognathism, and short stature see Myhre syndrome
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
lateral facial dysplasia see craniofacial microsomia
lattice corneal dystrophy type I
lattice corneal dystrophy type II
Laurence-Moon-Bardet-Biedl syndrome see Bardet-Biedl syndrome
Laurence-Moon-Biedl syndrome see Bardet-Biedl syndrome
Laurence-Moon syndrome see Bardet-Biedl syndrome
LBSL see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
LCA see Leber congenital amaurosis
LCH see Langerhans cell histiocytosis; Leydig cell hypoplasia
LCHAD deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LDH deficiency see lactate dehydrogenase deficiency
Le Merrer syndrome see 3-M syndrome
Learning Disorders
Leber congenital amaurosis
Leber hereditary optic neuropathy
Legius syndrome
Leigh syndrome
leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
Leisti-Hollander-Rimoin syndrome see Floating-Harbor syndrome
Lennox-Gastaut syndrome
lentiginosis, perioral see Peutz-Jeghers syndrome
lentiginosis profusa see multiple lentigines syndrome
Lenz microphthalmia syndrome
LEOPARD syndrome see multiple lentigines syndrome
Léri-Weill dyschondrosteosis
Lesch-Nyhan syndrome
leukemia, acute promyelocytic see acute promyelocytic leukemia
Leukodystrophies see Aicardi-Goutieres syndrome; Alexander disease; Canavan disease; hereditary diffuse leukoencephalopathy with spheroids; hypomyelination and congenital cataract; Krabbe disease; leukoencephalopathy with vanishing white matter; megalencephalic leukoencephalopathy with subcortical cysts; metachromatic leukodystrophy; Pelizaeus-Merzbacher disease; X-linked adrenoleukodystrophy; Zellweger spectrum
Leukodystrophy, spongiform see Canavan disease
leukodystrophy with Rosenthal fibers see Alexander disease
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
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
Leydig cell hypoplasia
LFS see Li-Fraumeni syndrome; Lujan syndrome
LGMD see limb-girdle muscular dystrophy
LGS see Lennox-Gastaut syndrome
LH resistance due to LH receptor deactivation see Leydig cell hypoplasia
LHON see Leber hereditary optic neuropathy
LI see lamellar ichthyosis
Li-Fraumeni syndrome
Liddle syndrome
limb-girdle muscular dystrophy
limit dextrinosis see glycogen storage disease type III
lip-pit syndrome see van der Woude syndrome
lip pseudocleft-hemagiomatous branchial cyst syndrome see branchio-oculo-facial 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-CoA 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
lipomatosis dolorosa see adiposis dolorosa
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
LISX2 see X-linked lissencephaly
Liver Diseases
liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
liver phosphorylase deficiency syndrome see glycogen storage disease type VI
LMBBS see Bardet-Biedl syndrome
LMD see Langer mesomelic dysplasia
LMS see Bardet-Biedl syndrome
LND see Lesch-Nyhan syndrome
LNS see Lesch-Nyhan syndrome
Loeys-Dietz syndrome
Loken-Senior syndrome see Senior-Løken syndrome
long-chain 3-hydroxyacyl-CoA 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
low gamma-GT familial intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
low serum HDL cholesterol see familial HDL deficiency
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
LRS see Larsen syndrome
Lubag see X-linked dystonia-parkinsonism
Lubs X-linked mental retardation syndrome see MECP2 duplication syndrome
Lujan syndrome
Lundborg-Unverricht syndrome see Unverricht-Lundborg disease
Lung Diseases
Luschka-Magendie foramina atresia see Dandy-Walker syndrome
LVM see megalencephalic leukoencephalopathy with subcortical cysts
LWD see Léri-Weill dyschondrosteosis
lymphangioleiomyomatosis
lymphangiomyomatosis see lymphangioleiomyomatosis
Lymphatic Diseases
Lymphedema
lymphedema-distichiasis syndrome
lymphedema praecox see Meige lymphedema
lymphedema with distichiasis see lymphedema-distichiasis syndrome
Lymphoma
Lynch syndrome
lysine alpha-ketoglutarate reductase deficiency disease see hyperlysinemia
lysinuric protein intolerance
Lysosomal acid lipase deficiency see Wolman 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
lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum see Schindler disease
lysosomal glycogen storage disease with normal acid maltase see Danon disease
lysosomal protective protein deficiency see galactosialidosis
Lysosomal Storage Diseases


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