MSX2

PanelMode of inheritanceDetails
4 panels
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis, type 2, 604757, Parietal foramina 1, 168500, Parietal foramina with cleidocranial dysplasia, 168550, Craniosynostosis, MSX2-related craniosynostosis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550, CRANIOSYNOSTOSIS, TYPE 2 604757
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, CRANIOSYNOSTOSIS, TYPE 2
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, type 2 604757, Parietal foramina with cleidocranial dysplasia 168550, Parietal foramina 1 168500