L - Health Conditions - Genetics Home Reference - NIH

L - Health Conditions - Genetics Home Reference - NIH

• L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
• l-arginine:glycine amidinotransferase deficiency, see Arginine:glycine amidinotransferase deficiency
• l-arginine:glycine aminidotransferase deficiency, see Arginine:glycine amidinotransferase deficiency
• L-CMD, see LMNA-related congenital muscular dystrophy
• L-xylulose reductase deficiency, see Essential pentosuria
• L-xylulosuria, see Essential pentosuria
• L1 syndrome
• labile factor deficiency, see Factor V deficiency
• Lacrimo-auriculo-dento-digital syndrome
• lacrimoauriculodentodigital syndrome, see Lacrimo-auriculo-dento-digital syndrome
• Lactate dehydrogenase deficiency
• lactate dehydrogenase subunit deficiencies, see Lactate dehydrogenase deficiency
• lactic acidosis due to LAD deficiency, see Dihydrolipoamide dehydrogenase deficiency
• lactic acidosis due to lipoamide dehydrogenase deficiency, see Dihydrolipoamide dehydrogenase deficiency
• Lactose intolerance
• lactose malabsorption, see Lactose intolerance
• LAD1, see Leukocyte adhesion deficiency type 1
• LADD syndrome, see Lacrimo-auriculo-dento-digital syndrome
• Lafora body disease, see Lafora progressive myoclonus epilepsy
• Lafora disease, see Lafora progressive myoclonus epilepsy
• Lafora progressive myoclonic epilepsy, see Lafora progressive myoclonus epilepsy
• Lafora progressive myoclonus epilepsy
• Lafora type progressive myoclonic epilepsy, see Lafora progressive myoclonus epilepsy
• lagophthalmia with bilateral cleft lip and palate, see Blepharocheilodontic syndrome
• LAH, see Autosomal recessive hypotrichosis
• Laing distal myopathy
• Laing early-onset distal myopathy, see Laing distal myopathy
• LAL deficiency, see Lysosomal acid lipase deficiency
• LAM, see Lymphangioleiomyomatosis
• LAMA2 MD, see LAMA2-related muscular dystrophy
• LAMA2-related muscular dystrophy
• LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome, see Carney complex
• Lamellar ichthyosis
• laminin alpha 2 deficiency, see LAMA2-related muscular dystrophy
• laminin alpha-2 deficient muscular dystrophy, see LAMA2-related muscular dystrophy
• LAMM syndrome, see Congenital deafness with labyrinthine aplasia, microtia, and microdontia
• Landry-Guillain-Barre syndrome, see Guillain-Barré syndrome
• Langer mesomelic dwarfism, see Langer mesomelic dysplasia
• Langer mesomelic dysplasia
• Langer-Giedion syndrome, see Trichorhinophalangeal syndrome type II
• Langerhans cell granulomatosis, see Langerhans cell histiocytosis
• Langerhans cell histiocytosis
• LAPS syndrome, see Myhre syndrome
• large-headed multiflagellar polyploid spermatozoa, see Macrozoospermia
• Laron dwarfism, see Laron syndrome
• Laron syndrome
• Laron-type dwarfism, see Laron syndrome
• Laron-type isolated somatotropin defect, see Laron syndrome
• Laron-type pituitary dwarfism, see Laron syndrome
• Laron-type short stature, see Laron syndrome
• Larsen syndrome
• Laryngo-onycho-cutaneous syndrome
• laryngoonychocutaneous syndrome, see Laryngo-onycho-cutaneous syndrome
• laryngotracheal stenosis, arthropathy, prognathism, and short stature, see Myhre syndrome
• late onset idiopathic scoliosis, see Adolescent idiopathic scoliosis
• late onset spondyloepiphyseal dysplasia, see X-linked spondyloepiphyseal dysplasia tarda
• late-infantile Batten disease, see CLN2 disease
• late-infantile neuronal ceroid lipofuscinosis, see CLN5 disease
• late-infantile neuronal ceroid lipofuscinosis, see CLN2 disease
• late-onset biotin-responsive multiple carboxylase deficiency, see Biotinidase deficiency
• late-onset lymphedema, see Meige disease
• late-onset multiple carboxylase deficiency, see Biotinidase deficiency
• lateral facial dysplasia, see Craniofacial microsomia
• Lateral meningocele syndrome
• Lattice corneal dystrophy type I
• Lattice corneal dystrophy type II
• lattice corneal dystrophy, gelsolin type, see Lattice corneal dystrophy type II
• Lauber's disease, see Fundus albipunctatus
• LBATC, see RNAse T2-deficient leukoencephalopathy
• LBD, see Dementia with Lewy bodies
• LBSL, see Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• LCA, see Leber congenital amaurosis
• LCAT deficiency, see Complete LCAT deficiency
• LCATA deficiency, see Fish-eye disease
• LCH, see Leydig cell hypoplasia
• LCH, see Langerhans cell histiocytosis
• LCH, see Lissencephaly with cerebellar hypoplasia
• LCHAD deficiency, see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• LCPD, see Legg-Calvé-Perthes disease
• LDH deficiency, see Lactate dehydrogenase deficiency
• LDS, see Loeys-Dietz syndrome
• Le Merrer syndrome, see 3-M syndrome
• LE syndrome, see Systemic lupus erythematosus
• Leber abiotrophy, see Leber congenital amaurosis
• Leber congenital amaurosis
• Leber congenital tapetoretinal degeneration, see Leber congenital amaurosis
• Leber hereditary optic atrophy, see Leber hereditary optic neuropathy
• Leber hereditary optic neuropathy
• Leber optic atrophy, see Leber hereditary optic neuropathy
• Leber's amaurosis, see Leber congenital amaurosis
• Leber's hereditary optic neuropathy, see Leber hereditary optic neuropathy
• Leber's optic atrophy, see Leber hereditary optic neuropathy
• Leber's optic neuropathy, see Leber hereditary optic neuropathy
• lecithin acyltransferase deficiency, see Complete LCAT deficiency
• lecithin:cholesterol acyltransferase deficiency, see Complete LCAT deficiency
• left isomerism, see Heterotaxy syndrome
• left ventricular hypertrabeculation, see Left ventricular noncompaction
• left ventricular myocardial noncompaction cardiomyopathy, see Left ventricular noncompaction
• left ventricular non-compaction, see Left ventricular noncompaction
• Left ventricular noncompaction
• Legg-Calvé-Perthes disease
• Legius syndrome
• Lehman syndrome, see Lateral meningocele syndrome
• Leigh disease, see Leigh syndrome
• Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, see Pyruvate carboxylase deficiency
• Leigh syndrome
• Leigh syndrome due to pyruvate carboxylase deficiency, see Pyruvate carboxylase deficiency
• Leigh's disease, see Leigh syndrome
• leiomyomatosis and renal cell cancer, see Hereditary leiomyomatosis and renal cell cancer
• Leisti-Hollander-Rimoin syndrome, see Floating-Harbor syndrome
• Lenegre Lev disease, see Progressive familial heart block
• Lennox-Gastaut syndrome
• lens subluxation, see Isolated ectopia lentis
• lentiginosis profusa, see Noonan syndrome with multiple lentigines
• lentiginosis, perioral, see Peutz-Jeghers syndrome
• Lenz dysmorphogenic syndrome, see Lenz microphthalmia syndrome
• Lenz dysplasia, see Lenz microphthalmia syndrome
• Lenz microphthalmia syndrome
• Lenz syndrome, see Lenz microphthalmia syndrome
• LEOPARD syndrome, see Noonan syndrome with multiple lentigines
• LEPD, see Congenital leptin deficiency
• leprechaunism, see Donohue syndrome
• leprechaunism syndrome, see Donohue syndrome
• Leprosy
• leptin deficiency, see Congenital leptin deficiency
• Leptin receptor deficiency
• leptin receptor-related monogenic obesity, see Leptin receptor deficiency
• Leri syndrome, see Melorheostosis
• Leri's disease, see Melorheostosis
• Leri-Weill dyschondrosteosis, see Léri-Weill dyschondrosteosis
• Lesch-Nyhan disease, see Lesch-Nyhan syndrome
• Lesch-Nyhan syndrome
• leucocyte adhesion deficiency type 1, see Leukocyte adhesion deficiency type 1
• leukemia, acute promyelocytic, see Acute promyelocytic leukemia
• Leukocyte adhesion deficiency type 1
• leukocyte adhesion molecule deficiency type 1, see Leukocyte adhesion deficiency type 1
• leukodystrophy with oligodontia, see Pol III-related leukodystrophy
• leukodystrophy with Rosenthal fibers, see Alexander disease
• leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, see Pol III-related leukodystrophy
• leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, see Pol III-related leukodystrophy
• leukoencephalopathy with ataxia, see CLCN2-related leukoencephalopathy
• leukoencephalopathy with bilateral anterior temporal lobe cysts, see RNAse T2-deficient leukoencephalopathy
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• leukoencephalopathy with mild cerebellar ataxia and white matter edema, see CLCN2-related leukoencephalopathy
• 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 thalamus and brainstem involvement and high lactate
• Leukoencephalopathy with vanishing white matter
• leukoencephalopathy with white matter edema, see CLCN2-related leukoencephalopathy
• leukoencephalopathy-ataxia-hypodontia-hypomyelination, see Pol III-related leukodystrophy
• leukokeratosis of oral mucosa, see White sponge nevus
• leukokeratosis, hereditary mucosal, see White sponge nevus
• Lev syndrome, see Progressive familial heart block
• Lev's disease, see Progressive familial heart block
• Lev-Lenègre disease, see Progressive familial heart block
• Levin syndrome 2, see Gnathodiaphyseal dysplasia
• Levy-Hollister syndrome, see Lacrimo-auriculo-dento-digital syndrome
• Lewy body dementia, see Dementia with Lewy bodies
• Lewy body disease, see Dementia with Lewy bodies
• Leydig cell agenesis, see Leydig cell hypoplasia
• Leydig cell hypoplasia
• LFS, see Lujan syndrome
• LFS, see Li-Fraumeni syndrome
• LGMD, see Limb-girdle muscular dystrophy
• LGS, see Lennox-Gastaut syndrome
• LGS, see Trichorhinophalangeal syndrome type II
• LH resistance due to LH receptor deactivation, see Leydig cell hypoplasia
• LHON, see Leber hereditary optic neuropathy
• LHRH deficiency and ataxia, see Gordon Holmes syndrome
• LI, see Lamellar ichthyosis
• Li-Fraumeni syndrome
• Libman-Sacks disease, see Systemic lupus erythematosus
• Liddle syndrome
• Liebenberg syndrome
• Limb-girdle muscular dystrophy
• limb-girdle syndrome, see Limb-girdle muscular dystrophy
• limit dextrinosis, see Glycogen storage disease type III
• LINCL, see CLN2 disease
• lip pseudocleft-hemagiomatous branchial cyst syndrome, see Branchio-oculo-facial syndrome
• lip-pit syndrome, see Van der Woude syndrome
• LIPA deficiency, see Lysosomal acid lipase deficiency
• lipase D deficiency, see Familial lipoprotein lipase deficiency
• LIPC deficiency, see Hepatic lipase deficiency
• LIPD deficiency, see Familial lipoprotein lipase deficiency
• lipid granulomatosis, see Erdheim-Chester disease
• lipid histiocytosis, see Niemann-Pick disease
• lipid proteinosis, see Lipoid proteinosis
• lipid transport defect of intestine, see Chylomicron retention disease
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency, see Short-chain acyl-CoA dehydrogenase deficiency
• lipoamide dehydrogenase deficiency, see Dihydrolipoamide dehydrogenase deficiency
• lipodystrophy, congenital generalized, see Congenital generalized lipodystrophy
• lipodystrophy, familial partial, see Familial partial lipodystrophy
• lipodystrophy, partial, with Rieger anomaly and short stature, see Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• lipoglycoproteinosis, see Lipoid proteinosis
• lipoid histiocytosis (kerasin type), see Gaucher disease
• Lipoid proteinosis
• lipoid proteinosis of Urbach and Wiethe, see Lipoid proteinosis
• lipoidosis cutis et mucosae, see Lipoid proteinosis
• lipoidproteinosis, see Lipoid proteinosis
• lipomatosis dolorosa, see Adiposis dolorosa
• Lipoprotein Deficiency Disease, HDL, Familial, see Tangier disease
• lipoprotein lipase deficiency, familial, see Familial lipoprotein lipase deficiency
• lipoproteinosis, see Lipoid proteinosis
• LIS1, see Isolated lissencephaly sequence
• LIS2, see Lissencephaly with cerebellar hypoplasia
• LIS3, see Lissencephaly with cerebellar hypoplasia
• lissencephaly 2, see Lissencephaly with cerebellar hypoplasia
• lissencephaly 3, see Lissencephaly with cerebellar hypoplasia
• lissencephaly syndrome, Norman-Roberts type, see Lissencephaly with cerebellar hypoplasia
• lissencephaly type 1, see Isolated lissencephaly sequence
• Lissencephaly with cerebellar hypoplasia
• lissencephaly, classic, see Isolated lissencephaly sequence
• LISX2, see X-linked lissencephaly with abnormal genitalia
• liver form of carnitine palmitoyltransferase deficiency, see Carnitine palmitoyltransferase I deficiency
• liver phosphorylase deficiency syndrome, see Glycogen storage disease type VI
• LKPAT, see CLCN2-related leukoencephalopathy
• LMD, see Langer mesomelic dysplasia
• LMNA-related CMD, see LMNA-related congenital muscular dystrophy
• LMNA-related congenital muscular dystrophy
• LMNB1-related adult-onset autosomal dominant leukodystrophy, see Autosomal dominant leukodystrophy with autonomic disease
• LMPH2, see Meige disease
• LMS, see Lateral meningocele syndrome
• LND, see Lesch-Nyhan syndrome
• LNS, see Lesch-Nyhan syndrome
• LO, see Pol III-related leukodystrophy
• LOC syndrome, see Laryngo-onycho-cutaneous syndrome
• LOCS, see Laryngo-onycho-cutaneous syndrome
• Loeys-Dietz aortic aneurysm syndrome, see Loeys-Dietz syndrome
• Loeys-Dietz syndrome
• LOGIC syndrome, see Laryngo-onycho-cutaneous syndrome
• Loken-Senior syndrome, see Senior-Løken syndrome
• long QT syndrome 7, see Andersen-Tawil syndrome
• Long QT syndrome with syndactyly, see Timothy syndrome
• long-chain 3-hydroxy acyl CoA dehydrogenase deficiency, see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-OH acyl-CoA dehydrogenase deficiency, see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-sighted, see Farsightedness
• long-sightedness, see Farsightedness
• Lou Gehrig disease, see Amyotrophic lateral sclerosis
• Louis-Bar syndrome, see Ataxia-telangiectasia
• low gamma-GT familial intrahepatic cholestasis, see Benign recurrent intrahepatic cholestasis
• low serum HDL cholesterol, see Familial HDL deficiency
• low γ-GT familial intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis
• Lowe oculocerebrorenal syndrome, see Lowe syndrome
• Lowe syndrome
• lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, see Spinal muscular atrophy with lower extremity predominance
• 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
• LPI - Lysinuric protein intolerance, 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
• LTBL, see Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Lubag, see X-linked dystonia-parkinsonism
• Lubs X-linked mental retardation syndrome, see MECP2 duplication syndrome
• Lujan syndrome
• Lujan-Fryns syndrome, see Lujan syndrome
• Lundborg-Unverricht syndrome, see Unverricht-Lundborg disease
• Lung cancer
• lung malignancies, see Lung cancer
• lung malignant tumors, see Lung cancer
• lung neoplasms, see Lung cancer
• lupus, see Systemic lupus erythematosus
• Luschka-Magendie foramina atresia, see Dandy-Walker malformation
• LVHT, see Left ventricular noncompaction
• LVM, see Megalencephalic leukoencephalopathy with subcortical cysts
• LWD, see Léri-Weill dyschondrosteosis
• Lyell's syndrome, see Stevens-Johnson syndrome/toxic epidermal necrolysis
• Lyme borreliosis, see Lyme disease
• Lyme disease
• Lymphangioleiomyomatosis
• lymphangiomyomatosis, see Lymphangioleiomyomatosis
• lymphedema praecox, see Meige disease
• lymphedema with distichiasis, see Lymphedema-distichiasis syndrome
• Lymphedema-distichiasis syndrome
• lymphedema-lymphangiectasia-intellectual disability syndrome, see Hennekam syndrome
• lymphocytic thyroiditis, see Hashimoto thyroiditis
• Lynch syndrome
• lysine alpha-ketoglutarate reductase deficiency disease, see Hyperlysinemia
• Lysinuric protein intolerance
• Lysosomal acid lipase deficiency
• 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