|
Auditory Neuropathy and Optic Atrophy (ANOA) |
approved
|
617717 |
|
|
|
|
Autosomal Dominant Acute Necrotizing Encephalopathy |
approved
|
608033 |
|
|
|
|
Autosomal dominant Dyskeratosis Congenita 1 (DKCA1) due to TERC mutation |
approved
|
127550 |
|
|
|
|
Autosomal dominant familial exudative vitreoretinopathy Types 1, 4 and 5 |
approved
|
133780, 613310, 601813 |
|
|
|
|
Autosomal Dominant Polycystic Kidney Disease 1 (APKD1) |
approved
|
173900 |
|
|
|
|
Autosomal Dominant Retinitis Pigmentosa (AP37) |
approved
|
611131 |
|
|
|
|
Autosomal Dominant Retinitis Pigmentosa Type 4 |
approved
|
613731 |
|
|
|
|
Autosomal dominant vitreoretinochoroidopathy |
approved
|
193220 |
|
|
|
|
Autosomal recessive bestrophinopathy |
approved
|
611809 |
|
|
|
|
Autosomal recessive congenital hyperinsulinism |
approved
|
256450, 601820 |
|
|
|
|
Autosomal Recessive Deafness 77 (DFNB77) |
approved
|
613079 |
|
|
|
|
Autosomal recessive Deafness Type 1A (DFNB1A) |
approved
|
220290 |
|
|
Autosomal Recessive Dopa Responsive Dystonia |
approved
|
233910 |
|
|
|
|
Autosomal recessive Epidermolysis Bullosa Dystrophica (RDEB) |
approved
|
226600 |
|
|
Autosomal Recessive Mitochondrial Complex 1 Deficiency (Complex 1 Deficient Leigh Syndrome) |
approved
|
252010 |
|
|
|
|
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD) |
approved
|
267500 |
|
|
|
|
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 |
|
|
|
