| Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 |
280333 |
DAG1
|
|
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 |
C4284790 |
DAG1
|
|
|
FKTN
|
|
|
LARGE1
|
|
|
RXYLT1
|
|
|
POMT1
|
16575835, 12369018, 27421908, 27604308, 19299310, 15037715, 15637732, 14678799 |
|
B4GAT1
|
|
|
GMPPB
|
|
|
POMT2
|
|
|
POMGNT1
|
|
|
FKRP
|
|
|
POMK
|
|
|
POMGNT2
|
|
|
B3GALNT2
|
|
|
CRPPA
|
22522420, 22522421 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 |
C3150414 |
LARGE1
|
27604308, 12966029, 24709677, 27421908, 19067344, 19299310, 21248746 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 |
C3150411 |
POMT2
|
17878297, 27421908, 17878207, 17634419, 27604308, 22700954, 17559086, 16701995, 15894594, 26495167, 24002165, 28980384, 18752264, 22958903, 19138766, 28815891 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 |
C3151519 |
POMGNT1
|
15466003, 12588800, 27604308, 12788071, 15236414, 17878207, 19067344, 27421908, 22419172, 19679478, 17030669, 15207699, 11709191 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 |
C3150413 |
FKRP
|
11592034, 20236121, 27421908, 15121789, 11053680, 27604308 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 |
C3553330 |
CRPPA
|
23288328, 9492098, 22522420, 24120487, 22522421, 26687144, 2522420, 23217329, 2328832 |
|
CRPPA-AS1
|
23288328, 22522420 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 |
C2751052 |
FKTN
|
27421908, 11165248, 14627679, 19299310, 27604308, 17878207, 18177472, 19179078 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 |
C3150415 |
POMT1
|
15637732, 16717220, 12369018, 20816175, 22323514, 19299310, 17559086, 16575835, 17869517, 24304607, 28116189, 24491487, 18752264, 27604308, 22549409, 14678799, 17878207, 27421908 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 |
C3150416 |
POMT2
|
28980384, 18752264, 27421908, 19299310, 26495167, 15894594, 17878207, 17634419, 17559086, 19138766, 27604308, 24002165, 17878297, 27854218 |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 |
C3150412 |
POMGNT1
|
15466003, 17030669, 22323514, 23326386, 25390965, 24282183, 23689641, 22554691, 28424332, 17906881, 21361872, 24731844, 17559086, 22419172, 17878207, 26938784, 19067344, 15236414, 19299310, 12588800, 18330676, 19679478, 11709191 |
