MBD5

methyl-CpG binding domain protein 5
OMIM: 611472
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental Retardation, Dominant, Autosomal Dominant Mental Retardation syndrome type 1, Mental retardation, autosomal dominant 1, 156200, EHMT1-LIKE INTELLECTUAL DISABILITY