| Congenital muscular dystrophy (disorder) |
C0699743 |
CAPN3
|
|
|
CHKB
|
|
|
COL6A1
|
|
|
COL6A2
|
|
|
COL6A3
|
27854218 |
|
COL12A1
|
|
|
DAG1
|
30055862 |
|
FKTN
|
|
|
ITGA7
|
9590299 |
|
LAMA2
|
|
|
LMNA
|
|
|
MYH7
|
|
|
RYR1
|
|
|
TTN
|
|
|
CNTNAP1
|
|
|
LARGE1
|
|
|
ADGRG1
|
|
|
POMT1
|
|
|
SYNE2
|
19542096 |
|
SYNE1
|
|
|
GMPPB
|
|
|
POMT2
|
|
|
FKBP14
|
|
|
POMGNT1
|
|
|
SELENON
|
|
|
FKRP
|
|
|
POMK
|
29910097 |
|
CRPPA
|
23288328 |
|
TTN-AS1
|
|
| Muscular Dystrophy, Congenital, Megaconial Type |
C1865233 |
CHKB
|
21665002, 24997086, 22782513, 25187204, 26067811, 27604308, 30986505, 26006750, 26782016, 16371353 |
|
CHKB-CPT1B
|
21665002 |
| Muscular dystrophy congenital, merosin negative |
C1263858 |
ITGA7
|
9590299 |
|
LAMA2
|
24225367, 9185182, 18700894, 16216942, 24534542, 10747011, 25525159, 11591858, 9541105, 28688748, 10619025, 27858741, 11287370, 12552556, 10694916, 24611677, 25332755, 25124546, 10022829, 17949279, 7550355, 27708273, 20207543, 24223650, 9674786, 23326386, 27234031, 10611118, 28182637, 27159402, 25663498 |
| Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency |
C1842898 |
LAMA2
|
20207543, 24225367, 30301903, 30055037 |
| MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) |
C2750785 |
LMNA
|
27532257, 18551513, 20186049, 11799477 |
| Muscular Dystrophy, Congenital, Type 1D |
C1837229 |
LARGE1
|
24709677, 12966029, 21248746, 27421908, 27604308 |
| MUSCULAR DYSTROPHY, CONGENITAL, 1C |
C1847759 |
FKRP
|
11592034, 11053680, 12666124, 17336067, 12654965, 27604308, 20236121, 14652796, 27421908 |
| Congenital muscular dystrophy due to LMNA mutation |
157973 |
LMNA
|
|
| Congenital muscular dystrophy, Fukuyama type |
272 |
FKTN
|
|
| Congenital muscular dystrophy, Ullrich type |
75840 |
COL6A1
|
|
|
COL6A2
|
|
|
COL6A3
|
|
|
COL12A1
|
|
