Diagnosis | Omim Number | Sample Count |
LACTIC ACIDOSIS, CONGENITAL INFANTILE | 245400 | 3 |
LANGER MESOMELIC DYSPLASIA | 249700 | 7 |
LARYNGEAL DYSTONIA - ABDUCTOR TYPE | | 1 |
LARYNGEAL DYSTONIA - ADDUCTOR TYPE | | 9 |
LARYNGEAL DYSTONIA - MIXED | | 1 |
LEBER CONGENITAL AMAUROSIS 1; LCA1 | 204000 | 4 |
LEBER OPTIC ATROPHY | 535000 | 3 |
LEIGH SYNDROME; LS | 256000 | 42 |
LEOPARD SYNDROME | 151100 | 4 |
LEPRECHAUNISM | 246200 | 11 |
LESCH-NYHAN SYNDROME; LNS | 300322 | 50 |
LETTERER-SIWE DISEASE | 246400 | 1 |
LEUCINE-RICH REPEAT KINASE2; LRRK2 | 609007 | 3 |
LEUKEMIA, CHRONIC MYELOID; CML | 608232 | 1 |
LEUKEMIA, SUB-ACUTE | | 1 |
LEUKODYSTROPHY, HYPOMYELINATING, 22; HLD22 | | 1 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED) | 603896 | 3 |
LIG4 SYNDROME | 606593 | 3 |
LIMB DYSTONIA - UPPER EXTREMITY DYSTONIA | | 2 |
LIPASE DEFICIENCY, COMBINED | 246650 | 2 |
LIPASE, CONGENITAL ABSENCE OF PANCREATIC | 246600 | 4 |
LIPOID PROTEINOSIS OF URBACH AND WIETHE | 247100 | 1 |
LONG QT SYNDROME 3; LQT3 | | 1 |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | 609016 | 1 |
LOW-GGT PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (NOT FURTHER CHARACTERIZED) | | 5 |
LOWE OCULOCEREBRORENAL SYNDROME; OCRL | 309000 | 2 |
LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL | 247640 | 2 |