|
Joubert syndrome type 5 |
approved
|
610188 |
|
|
|
|
Joubert syndrome type 6 |
approved
|
610688 |
|
|
|
|
Joubert syndrome type 7 |
approved
|
611560 |
|
|
|
|
Joubert syndrome type 8 |
approved
|
612291 |
|
|
|
|
Joubert syndrome type 9 |
approved
|
612285 |
|
|
|
|
Junctional Epidermolysis Bullosa (Herlitz type) |
approved
|
226700 |
|
|
Juvenile Polyposis Syndrome (JPS) |
approved
|
174900 |
|
|
|
|
Kabuki Syndrome Type 1 |
approved
|
147920 |
|
|
|
|
Kabuki Syndrome Type 2 |
approved
|
300867 |
|
|
|
|
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS) |
approved
|
530000, 557000 |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX) |
approved
|
308800 |
|
|
|
|
Krabbe Disease |
approved
|
245200 |
|
|
L–2-Hydroxyglutaric aciduria |
approved
|
236792 |
|
|
|
|
Lacrimo-auriculo-dento-digital syndrome (LADD) |
approved
|
149730 |
|
|
|
|
Langers Mesomelic Dysplasia (LMD) |
approved
|
249700 |
|
|
|
|
Larsen Syndrome |
approved
|
150250 |
|
|
|
|
Laryngo-onycho-cutaneous (LOC) Syndrome |
approved
|
245660 |
|
|
|
|
Laurin-Sandrow Syndrome (LSS) |
approved
|
135750 |
|
|
|
|
Leber congenital amaurosis (LCA) |
approved
|
204000, 204100 |
|
|
|
|
Leber congenital amaurosis type 10 |
approved
|
611755 |
|
|
|
