|
Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) |
approved
|
110100 |
|
|
|
|
Bloom Syndrome |
approved
|
210900 |
|
|
|
|
Branchio-oculo-facial Syndrome (BOFS) |
approved
|
113620 |
|
|
|
|
Branchio-Oto-Renal Syndrome 1 (BOR1) |
approved
|
113650 |
|
|
BRCA 1 (increased susceptibility to breast cancer) |
approved
|
113705 |
|
|
Breast Ovarian Cancer Familial Susceptibility (BRCA2) |
approved
|
612555, 600185 |
|
|
Brooke-Spiegler Syndrome (BSS) |
approved
|
605041 |
|
|
|
|
Brugada Syndrome 1 (Sudden Unexplained Nocturnal Death Syndrome (SUNDS)) |
approved
|
601144 |
|
|
|
|
Calpainopathy |
approved
|
253600 |
|
|
Campomelic Dysplasia |
approved
|
114290 |
|
|
|
|
Canavan Disease |
approved
|
271900 |
|
|
Capillary Malformation-Arteriovenous Malformation Type 1 (CM-AVM1) |
approved
|
608354 |
|
|
|
|
Capillary Malformation-Arteriovenous Malformation Type 2 (CM-AVM2) |
approved
|
618196 |
|
|
|
|
Carney Complex |
approved
|
160980 |
|
|
Carnitine Acylcarnitine Translocase Deficiency (CACT) |
approved
|
212138 |
|
|
|
|
Cartilage-Hair Hypoplasia |
approved
|
250250 |
|
|
|
|
Cartilage-hair hypoplasia spectrum |
approved
|
157660 |
|
|
|
|
Cataract 1 (CTRCT1) |
approved
|
116200 |
|
|
|
|
Cataract 2 (CTRCT2) |
approved
|
604307 |
|
|
|
|
Cataract 4 (CTRCT4) |
approved
|
115700 |
|
|
|
