SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1
OMIM: 614982
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Isolated Arhinia/Bosma Arhinia syndrome
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Isolated Arhinia/Bosma Arhinia syndrome
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457