MTX2

PanelMode of inheritanceDetails
3 panels
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia, lipodystrophy, arterial calcification, growth retardation
R-numbers: R158
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Skeletal dysplasia, Mandibuloacral dysplasia, lipodystrophy, arterial calcification, Mandibuloacral dysplasia progeroid syndrome, OMIM:619127