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Disorders

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Kabuki Syndrome GeneReview OMIM
KDM6A-Related Kabuki Syndrome Tests OMIM
KMT2D-Related Kabuki Syndrome Tests OMIM
Kallmann Syndrome/ Hypogonadotropic Hypogonadism Multi-Gene Panels Tests
KANSL1-Related Intellectual Disability Syndrome Tests GeneReview OMIM
17q21.31 Microdeletion Syndrome OMIM
Kanzaki disease Tests OMIM
KAT6B-Related Disorders Tests GeneReview OMIM
Genitopatellar Syndrome OMIM
Say-Barber-Biesecker Variant of Ohdo Syndrome OMIM
KBG Syndrome Tests OMIM
KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus Tests OMIM
KCNQ2-Related Disorders Tests GeneReview OMIM
KCNQ2-Related Benign Familial Neonatal Epilepsy OMIM
KCNQ2-Related Neonatal Epileptic Encephalopathy OMIM
KCNQ3-Related Benign Familial Neonatal Epilepsy Tests OMIM
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant Tests OMIM
Keratoconus 1 Tests OMIM
Ketothiolase Deficiency Tests OMIM
Keutel Syndrome Tests OMIM
KIAA2022-Related X-Linked Mental Retardation Tests OMIM
KIF1B-Related Pheochromocytoma Tests OMIM
Kindler Syndrome Tests OMIM
Kleefstra Syndrome Tests GeneReview OMIM
Klippel-Feil Syndrome Tests OMIM
Knobloch Syndrome Type I Tests OMIM
Kohlschutter-Tonz Syndrome Tests OMIM
Kowarski Syndrome Tests OMIM
Krabbe Disease Tests GeneReview OMIM
Krabbe Disease, Atypical, due to Saposin A Deficiency Tests OMIM
KRT1-Related Epidermolytic Hyperkeratosis Tests OMIM
KRT10-Related Epidermolytic Hyperkeratosis Tests OMIM
L-2-Hydroxyglutaric Aciduria Tests OMIM
L1 Syndrome Tests GeneReview OMIM
MASA Syndrome OMIM
Spastic Paraplegia 1 OMIM
X-Linked Corpus Callosum Agenesis
X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius OMIM
Lacrimo-Auriculo-Dento-Digital Syndrome OMIM
FGF10-Related Lacrimo-Auriculo-Dento-Digital Syndrome Tests OMIM
FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome Tests OMIM
FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome Tests OMIM
Lactate Dehydrogenase B Deficiency Tests OMIM
Lactose Intolerance, Adult Type Tests OMIM
Laing Distal Myopathy Tests GeneReview OMIM
Langer Mesomelic Dwarfism Tests OMIM
Laryngoonychocutaneous Syndrome Tests OMIM
Late-Onset Retinal Degeneration Tests OMIM
Lathosterolosis Tests OMIM
Lattice Corneal Dystrophy Type I Tests OMIM
Lattice Corneal Dystrophy Type IIIa Tests OMIM
Leber Congenital Amaurosis GeneReview OMIM
AIPL1-Related Leber Congenital Amaurosis Tests OMIM
CEP290-Related Leber Congenital Amaurosis Tests OMIM
CRB1-Related Leber Congenital Amaurosis Tests OMIM
CRX-Related Leber Congenital Amaurosis Tests OMIM
GUCY2D-Related Leber Congenital Amaurosis Tests OMIM
IMPDH1-Related Leber Congenital Amaurosis Tests OMIM
IQCB1-Related Leber Congenital Amaurosis Tests OMIM
KCNJ13-Related Leber Congenital Amaurosis Tests OMIM
LCA5-Related Leber Congenital Amaurosis Tests OMIM
LRAT-Related Leber Congenital Amaurosis Tests OMIM
NMNAT1-Related Leber Congenital Amaurosis Tests OMIM
RD3-Related Leber Congenital Amaurosis Tests OMIM
RDH12-Related Leber Congenital Amaurosis Tests OMIM
RPE65-Related Leber Congenital Amaurosis Tests OMIM
RPGRIP1-Related Leber Congenital Amaurosis Tests OMIM
SPATA7-Related Leber Congenital Amaurosis Tests OMIM
TULP1-Related Leber Congenital Amaurosis Tests OMIM
Leber Congenital Amaurosis Multi-Gene Panels Tests
Lecithin Cholesterol Acyltransferase Deficiency Tests OMIM
Left Ventricular Noncompaction 4 Tests OMIM
Left Ventricular Noncompaction 5 Tests OMIM
Left Ventricular Noncompaction 6 Tests OMIM
Left Ventricular Outflow Tract Obstruction (LVOTO) Tests OMIM
Legius Syndrome Tests GeneReview OMIM
Leigh Syndrome (nuclear DNA mutation) Tests OMIM
Leigh Syndrome, French-Canadian Type Tests OMIM
Lenz Microphthalmia Syndrome GeneReview OMIM
BCOR-Related Lenz Microphthalmia Syndrome Tests OMIM
LEOPARD Syndrome GeneReview OMIM
BRAF-Related LEOPARD Syndrome Tests OMIM
PTPN11-Related LEOPARD Syndrome Tests OMIM
RAF1-Related LEOPARD Syndrome Tests OMIM
Lesch-Nyhan Syndrome Tests GeneReview OMIM
Lethal Arthrogryposis With Anterior Horn Cell Disease Tests OMIM
Lethal Congenital Contracture Syndrome 1 Tests OMIM
Lethal Encephalopathy due to Defective Mitochondrial Peroxisomal Fission Tests OMIM
Lethal Restrictive Dermopathy, LMNA-Related Tests OMIM
Lethal Restrictive Dermopathy, ZMPSTE24-Related Tests OMIM
Leukocyte Adhesion Deficiency, Type 1 Tests OMIM
Leukodystrophy, Adult-Onset, Autosomal Dominant Tests OMIM
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation Tests GeneReview OMIM
Leukoencephalopathy with Dystonia and Motor Neuropathy Tests OMIM
Leukoencephalopathy, Cystic, without Megalencephaly Tests OMIM
Leydig Cell Hypoplasia/Agenesis Tests OMIM
LHX3-Related Combined Pituitary Hormone Deficiency Tests OMIM
LHX4-Related Combined Pituitary Hormone Deficiency Tests OMIM
Li-Fraumeni Syndrome Tests GeneReview OMIM
Li-Fraumeni Syndrome, CHEK2-Related Tests OMIM
Liddle Syndrome, SCNN1B-Related Tests OMIM
Liddle Syndrome, SCNN1G-Related Tests OMIM
LIG4 Syndrome Tests OMIM
Limb-Girdle Muscular Dystrophy GeneReview OMIM
Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Caveolinopathies Tests GeneReview OMIM
CAV3-Related Distal Myopathy OMIM
CAV3-Related Hypertrophic Cardiomyopathy OMIM
CAV3-Related Isolated HyperCKemia OMIM
CAV3-Related Rippling Muscle Disease OMIM
Limb-Girdle Muscular Dystrophy Type 1C OMIM
Limb-Girdle Muscular Dystrophy Type 1A Tests OMIM
Limb-Girdle Muscular Dystrophy Type 1D OMIM
Limb-Girdle Muscular Dystrophy Type 1E Tests OMIM
Limb-Girdle Muscular Dystrophy Type 1F OMIM
Limb-Girdle Muscular Dystrophy Type 1G OMIM
Limb-Girdle Muscular Dystrophy Type 1H OMIM
LMNA-Related Muscle Diseases Tests OMIM
Congenital Muscular Dystrophy, LMNA-Related OMIM
Limb-Girdle Muscular Dystrophy Type 1B OMIM
Limb-Girdle Muscular Dystrophies, Autosomal Recessive
ANO5-Related Muscle Diseases Tests GeneReview OMIM
Limb-Girdle Muscular Dystrophy Type 2L OMIM
Miyoshi Muscular Dystrophy 3 OMIM
Calpainopathy Tests GeneReview OMIM
DAG1-Related Muscle Diseases OMIM
Dysferlinopathy Tests GeneReview OMIM
Limb-Girdle Muscular Dystrophy Type 2B
Miyoshi Distal Myopathy
FKRP-Related Muscle Diseases Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2I OMIM
Walker-Warburg Syndrome OMIM
FKTN-Related Muscle Diseases Tests OMIM
Fukuyama Congenital Muscular Dystrophy GeneReview OMIM
Limb-Girdle Muscular Dystrophy Type 2M OMIM
Walker-Warburg Syndrome OMIM
Limb-Girdle Muscular Dystrophy Type 2G Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2H Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2J Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2Q Tests OMIM
POMGNT1-Related Muscle Diseases Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2O OMIM
Muscle-Eye-Brain Disease OMIM
POMT1-Related Muscle Diseases Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2K OMIM
Walker-Warburg Syndrome OMIM
POMT2-Related Muscle Diseases Tests OMIM
Limb-Girdle Muscular Dystrophy Type 2N OMIM
Walker-Warburg Syndrome OMIM
Sarcoglycanopathies OMIM
Alpha-Sarcoglycanopathy Tests OMIM
Beta-Sarcoglycanopathy Tests OMIM
Delta-Sarcoglycanopathy Tests OMIM
Gamma-Sarcoglycanopathy Tests OMIM
Limb-Girdle Muscular Dystrophy Multi-Gene Panels Tests
LIS1-Associated Lissencephaly/Subcortical Band Heterotopia Tests GeneReview OMIM
17-Linked Subcortical Band Heterotopia
Isolated 17-Linked Lissencephaly OMIM
Miller-Dieker Syndrome OMIM
Lissencephaly 2 Tests OMIM
Lissencephaly 3 Tests OMIM
Lissencephaly 4 Tests OMIM
Lissencephaly Multi-Gene Panels Tests
Liver Failure, Acute Infantile Tests OMIM
Loeys-Dietz Syndrome GeneReview OMIM
SMAD3-Related Loeys-Dietz Syndrome Tests OMIM
TGFB2-Related Loeys-Dietz Syndrome Tests OMIM
TGFBR1-Related Loeys-Dietz Syndrome Tests OMIM
TGFBR2-Related Loeys-Dietz Syndrome Tests OMIM
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Tests OMIM
Long QT Syndrome 4 Tests OMIM
Long QT Syndrome Multi-Gene Panels Tests
Low Gamma-GT Familial Intrahepatic Cholestasis GeneReview OMIM
ABCB11-Related Intrahepatic Cholestasis Tests OMIM
Benign Recurrent Intrahepatic Cholestasis, Type 2 OMIM
Progressive Familial Intrahepatic Cholestasis, Type 2 OMIM
ATP8B1-Related Intrahepatic Cholestasis Tests OMIM
Benign Recurrent Intrahepatic Cholestasis, Type 1 OMIM
Progressive Familial Intrahepatic Cholestasis, Type 1 OMIM
Lowe Syndrome Tests GeneReview OMIM
LRP5-Related Autosomal Dominant Osteopetrosis Tests OMIM
LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive Tests OMIM
Lung Cancer OMIM
Lung Cancer, EGFR-Related Tests OMIM
Lung Cancer, GSTM1-Related Tests OMIM
Lymphedema, Primary, with Myelodysplasia Tests OMIM
Lymphedema-Distichiasis Syndrome Tests GeneReview OMIM
Lymphoproliferative Disease, X-Linked GeneReview OMIM
SH2D1A-Related Lymphoproliferative Disease, X-Linked Tests OMIM
XIAP-Related Lymphoproliferative Disease, X-Linked Tests OMIM
Lymphoproliferative Syndrome, EBV-Associated, Autosomal, 1 Tests OMIM
Lynch Syndrome Tests GeneReview OMIM
EPCAM-Related Lynch Syndrome Tests OMIM
MLH1-Related Lynch Syndrome Tests OMIM
MLH1-Related Muir-Torre Syndrome OMIM
MLH1-Related Turcot Syndrome OMIM
MLH3-Related Lynch Syndrome Tests OMIM
MSH2-Related Lynch Syndrome Tests OMIM
MSH2-Related Muir-Torre Syndrome OMIM
MSH2-Related Turcot Syndrome OMIM
MSH6-Related Lynch Syndrome Tests OMIM
MSH6-Related Turcot Syndrome OMIM
PMS1-Related Lynch Syndrome Tests OMIM
PMS2-Related Lynch Syndrome Tests OMIM
PMS2-Related Turcot Syndrome OMIM
Lysinuric Protein Intolerance Tests GeneReview OMIM
Lysosomal Acid Lipase Deficiency Tests OMIM
Cholesterol Ester Storage Disease OMIM
Wolman Disease OMIM
LYZ-Related Familial Visceral Amyloidosis Tests OMIM