DCX

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
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
SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067, LISSENCEPHALY X-LINKED TYPE 1 300067
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
SUBCORTICAL BAND HETEROTOPIA X-LINKED, LISSENCEPHALY X-LINKED TYPE 1
R-numbers: R59
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
Lissencephaly, X-linked 300067, Subcortical laminal heterotopia, X-linked 300067
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lissencephaly, X-linked, 300067Subcortical laminal heteropia, X-linked, 300067, SUBCORTICAL BAND HETEROTOPIA X-LINKED (SBHX)
Component of the following Super Panels:
  • - Cerebral malformations
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
Lissencephaly, X-linked 300067, Subcortical laminal heteropia, X-linked 300067, Classic Lissencephaly/Subcortical Band Heterotopia