Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- 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 Lissencephaly with cerebellar hypoplasia
- LCH, see Langerhans cell histiocytosis
- 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 Trichorhinophalangeal syndrome type II
- LGS, see Lennox-Gastaut syndrome
- 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
- Léri-Weill dyschondrosteosis
Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more
The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.