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Laband Syndrome
Lacrimal Duct Defect
Lacrimoauriculodentodigital Syndrome (Levy Hollister Syndrome)
Lacunar Skull
Ladda Zonana Ramer Syndrome (Contractures Ectodermal Dysplasia Cleft Lip Palate)
Lambert Syndrome (Branchial Dysplasia Mental Retardation Inguinal Hernia)
Landings Disease (GM 1 gangliosidosis)
Landouzy-Dejerine Dystrophy
Langer Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II)
Langer Mesomelic Dysplasia (Dyschondrosteosis, Homozygous; Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type)
Langer Nishino Yamaguchi Syndrome (Brachymesomelia Renal Syndrome)
Laron Syndrome (Pituitary Dwarfism II)
Larsen Syndrome
Laryngeal Abductor Paralysis
Laryngeal Hemangioma
Laryngeal Web
Laryngocele
Laryngomalacia
Lateral Incisors, Pegged or Missing/Absent (Hypodontia, Incisor and Premolar)
Laurence Moon (Bardet Biedl) Syndrome (LMBBS)
LCAD Deficiency
LCAT Deficiency
Leber Congenital Amaurosis (Amaurosis Congenita of Leber)
Lee Root Fenske Syndrome
Leichtman Wood Rohn Syndrome (Anophthalmia Cleft Lip Palate Hypothalamic Disorder)
Leiden Syndrome (APC Resistance)
Leigh Syndrome
- Maternally Inherited (MILS Syndrome
Lenegre Lev Disease
Lennox Gastaut Syndrome
Leonard Hughes Syndrome
LEOPARD Syndrome (Cardiomyopathic Lentiginosis, Multiple Lentingines Syndrome)
Leprechaunism Syndrome (Donohue Syndrome)
Leri Weill Syndrome (Dyschondrosteosis)
Lesch Nyhan Syndrome
Lethal Acrodysgenital Syndrome
Leucinosis
Leukoderma
Leukodystrophy
Leukocyte Adhesion Deficiency (LAD, Lymphocyte Function-Associated Antigen 1 [LFA1] Immunodeficiency)
Leukomelanoderma with Infantilism, Mental Retardation, Hypodontia, and Hypotrichosis
Levin Syndrome (Cranioectodermal Dysplasia, Sensenbrenner Syndrome)
Levine Crichley Syndrome (Acanthocytosis-Chorea)
Levy Hollister Syndrome
Lewis Ocular Albinism
Lewis Pashayan Syndrome (Cleft Lip and Palate with Ectrodactyly)
Leyden Moebius Muscular Dystrophy
Liebenberg Syndrome
Limb-Body Wall Syndrome (LBW Syndrome)
Limb-Mammary Syndrome
Limb/Pelvis-Hypoplasia/Aplasia Syndrome
Lip Pit Syndrome
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
Lipogranulomatosis
Lipoproteine Lipase Deficiency
Lissencephaly
Liver Glycogen Phosphorylase Kinase Deficiency (Glycogen Storage Disease, Type IX)
Lobstein Disease
Long QT Syndrome (Jervell Lange-Nielsen syndrome, Romano-Ward syndrome)
Loose Anagen Hair Syndrome (Coloboma Hair Abnormality)
Lopez Hernandez Syndrome (Craniosynostosis with Alopecia and Brain Defect)
Louis Bar Syndrome
Low Density Lipoprotein (LDL) Receptor Disorder
Lowe (Oculo-Cerebro-Renal) Syndrome
Lowry Syndrome (Craniosynostosis Fibular Aplasia)
Lowry Yong Syndrome (Cleft Lip and Palate, Deafness, Sacral Lipoma)
Lubani Al Saleh Teebi Syndrome (Cystic Fibrosis Gastritis Megaloblastic Anaemia)
Lubs Syndrome
Lucey Driscoll Syndrome
Luckenschadel
Lujan-Fryns syndrome
Lupus (C3-Binding Protein, Complement 3b Receptor Component Deficiency, CR1, Lupus, Discoid/Disseminated/Systemic Lupus Erythematosus)
Lutz Richner Landolt Syndrome (Biliary Malformation with Renal Tubular Insufficiency, Cholestatic Jaundice with Renal Tubular Insufficiency)
Lymphangiectasia/Lymphangioma(tosis)
Lymphatic Dysplasia
Lymphocytic Leukemia
- Acute
- A disorder of blood-cell production in which abnormal white blood cells accumulate in the blood and bone marrow.
Lymphoid Hamartoma
Lymphoproliferative Syndrome/Disease(, X-Linked)
Lynch Lee Murday Syndrome (Caudal Appendage with Deafness)
Lysosomal Alpha-D-Mannosidase Deficiency
Lysosomal Beta-A-Mannosidase Deficiency
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