|
Autsomal recessive Epidermolysis Bullosa Dystrophica (RDEB) |
approved
|
226600 |
|
|
Axenfeld-Rieger syndrome Types 1 and 3 |
approved
|
180500, 602482 |
|
|
|
|
Bailey-Bloch Congenital Myopathy (BBCM) |
approved
|
255995 |
|
|
|
|
BAP1 tumour predisposition syndrome (BAP1-TPDS) |
approved
|
614327 |
|
|
|
|
Bardet-Biedl Syndrome (BBS1) |
approved
|
209900 |
|
|
Bardet-Biedl Syndrome 10 (BBS10) |
approved
|
615987 |
|
|
|
|
Bare Lymphocyte Syndrome, Type II, complementation groups A-E |
approved
|
209920 |
|
|
|
|
Barth Syndrome |
approved
|
302060 |
|
|
Bartsocas-Papas Syndrome (Popliteal Pterygium syndrome, lethal type) |
approved
|
263650 |
|
|
|
|
Bartter Syndrome Types 1, 2, 3, 4a & 4b (BARTS) |
approved
|
601678, 241200, 607364, 602522, 613090 |
|
|
|
|
Beare Stevenson syndrome |
approved
|
123790 |
|
|
|
|
Beckwith-Wiedemann Syndrome caused by a mutation in the CDKN1C gene or inheritance of a chromosome translocation, deletion or duplication affecting the chromosome 11 Beckwith Wiedemann syndrome region |
approved
|
|
|
|
Benign Chronic Pemphigus (BCPM) |
approved
|
169600 |
|
|
|
|
Beta Thalassaemia* |
approved
|
141900 |
|
|
Bethlem Myopathy |
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 |
|
|
|
|
Branchio-oculo-facial Syndrome (BOFS) |
approved
|
113620 |
|
|
|
