MID1

PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
OPITZ GBBB SYNDROME, TYPE I, GBBB1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
OPITZ G/BBB SYNDROME, X-LINKED 300000
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
OPITZ G/BBB SYNDROME, X-LINKED
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Opitz GBBB syndrome, type I, 300000, OPITZ G/BBB SYNDROME, X-LINKED