EMD

PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
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 cardiac death
R-numbers: R132
Signed-off version 1.6
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
R-numbers: R21
Signed-off version 1.92
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
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
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 cardiac death
R-numbers: R328
Signed-off version 1.5
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked 310300