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 CLN2 disease
- late-infantile neuronal ceroid lipofuscinosis, see CLN5 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
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