Bethlem Myopathy 1 (BTHLM1) |
approved
|
158810 |
|
|
Bilateral Frontoparietal Polymicrogyria (BFPP) |
approved
|
606854 |
|
|
Birt-Hogg-Dubé Syndrome |
approved
|
135150 |
|
|
Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) |
approved
|
110100 |
|
|
Bloom Syndrome |
approved
|
210900 |
|
|
Borjeson-Forssman-Lehmann Syndrome; BFLS |
approved
|
301900 |
|
|
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 |
|
|
Cantu Syndrome, Hypertrichotic Osteochondrodysplasia |
approved
|
239850 |
|
|
Capillary Malformation-Arteriovenous Malformation Type 1 (CM-AVM1) |
approved
|
608354 |
|
|
Capillary Malformation-Arteriovenous Malformation Type 2 (CM-AVM2) |
approved
|
618196 |
|
|
Cardiomyopathy, dilated 1AA, with or without LVNC |
approved
|
612158 |
|
|
Cardiomyopathy, dilated 1BB |
approved
|
612877 |
|
|