EMD

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R132
Signed-off version 2.25
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R328
Signed-off version 2.8
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Heart conduction disease, MONDO:0000992