|
Loeys-Dietz syndrome types 1 and 2 |
approved
|
609192, 610168 |
|
|
|
|
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
approved
|
609016 |
|
|
Long QT Syndrome Types 1, 2, 3, 5 & 6 |
approved
|
192500, 613688, 603830, 613695, 613693 |
|
|
Lowe Oculocerebrorenal Syndrome |
approved
|
309000 |
|
|
Lubs X-linked mental retardation syndrome MRXSL (MECP2 Duplication syndrome) |
approved
|
300260 |
|
|
|
|
Lymphatic malformation 1, (LMPHM1) (Milroy Syndrome) |
approved
|
153100 |
|
|
|
|
Lymphatic malformation 3, (LMPHM3) |
approved
|
613480 |
|
|
|
|
Lymphatic malformation 4, (LMPHM4) |
approved
|
615907 |
|
|
|
|
Lymphatic malformation 6, (LMPHM6) |
approved
|
616843 |
|
|
|
|
Lymphatic malformation 7, (LMPHM7) |
approved
|
617300 |
|
|
|
|
Lymphoproliferative Syndrome, X-linked,1 (XLR) |
approved
|
308240 |
|
|
|
|
Mabry Syndrome (Hyperphosphatasia mental retardation syndrome-HPMRS), Type 1 |
approved
|
239300 |
|
|
|
|
Malignant Infantile Osteopetrosis |
approved
|
259700 |
|
|
Maple Syrup Urine Disorder (MSUD) |
approved
|
248600 |
|
|
Marfan Syndrome (MFS) |
approved
|
154700 |
|
|
Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11 |
approved
|
249000, 603194, 607361, 611134, 611561, 612284, 267010, 613885, 614209, 614175 and 615397 |
|
|
|
|
Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
approved
|
201450 |
|
|
Medullary Cystic Kidney Disease 2 (MCKD2) (also known as Autosomal Dominant Tubulointerstitial Kidney Disease due to Uromodulin Mutations (ADTKD-UMOD) |
approved
|
603860 |
|
|
|
|
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency (DHFR) |
approved
|
613839 |
|
|
|
|
MEGDEL syndrome (3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome) |
approved
|
614739 |
|
|
|
