X-linked myotubular myopathy

Disease Term Disease ID Gene Symbol Classification References Source
X-LINKED MYOTUBULAR MYOPATHY
MONDO:0010683
MTM1 Unknown — ClinGen GenCC
X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME
456328
MAMLD1 Unknown
10464101 10868234 16365218 19671658 21633365 23076972 23400403 23606368 25928534 27941975 7581392 7839145
Orphanet
MTM1 Unknown
16217076 203547 23315026 23850239 24488655 25683699 25817839
Orphanet