Lethal congenital contracture syndrome 7 |
approved
|
616286 |
|
|
Lethal Congenital Contracture syndrome type 1 |
approved
|
253310 |
|
|
Lethal Congenital Contracture syndrome type 10 |
approved
|
617022 |
|
|
Lethal Congenital Contracture syndrome type 11 |
approved
|
617194 |
|
|
Lethal Congenital Contracture syndrome type 9 |
approved
|
616503 |
|
|
Lethal Multiple Pterygium Syndrome (LMPS) |
approved
|
253290 |
|
|
Leukaemia, acute myeloid, related to GATA2 mutation |
approved
|
601626 |
|
|
Leukocyte Adhesion Deficiency (Type I) (LAD)* |
approved
|
116920 |
|
Leukoencephalopathy with Vanishing White Matter |
approved
|
603896 |
|
|
Lewy body dementia |
approved
|
127750 |
|
|
Li-Fraumeni Syndrome 1 |
approved
|
151623 |
|
Lissencephaly 2 (Norman-Roberts type) (LIS-2), |
approved
|
257320 |
|
|
Lissencephaly, 4 (LIS4) |
approved
|
614019 |
|
|
Lissencephaly, type 3 |
approved
|
611603 |
|
|
Lissencephaly, X-Linked, 2; LISX2 and Hydranencephaly with Abnormal Genitalia |
approved
|
300215 |
|
|
Loeys-Dietz syndrome type 4 |
approved
|
614816 |
|
|
Loeys-Dietz syndrome types 1 and 2 |
approved
|
609192, 610168 |
|
|
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) |
approved
|
609016 |
|
|
Long QT Syndrome Types 1, 2, 3, 5 & 6 |
approved
|
192500, 613688, 603830, 613695, 613693 |
|
|
Lowe Oculocerebrorenal Syndrome |
approved
|
309000 |
|