DCX

PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
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
SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067, LISSENCEPHALY X-LINKED TYPE 1 300067
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
R-numbers: R21, R412
Signed-off version 4.0
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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
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, OMIM:300067, Subcortical laminal heterotopia, X-linked, OMIM:300067
R-numbers: R429
Signed-off version 1.1
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, OMIM:300067 (males), Subcortical laminal heterotopia, X-linked, OMIM:300067 (females)