MMP13

matrix metallopeptidase 13
OMIM: 600108
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
METAPHYSEAL ANADYSPLASIA TYPE 1 602111, SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
METAPHYSEAL ANADYSPLASIA TYPE 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Metaphyseal anadysplasia 1 602111, Spondyloepimetaphyseal dysplasia, Missouri type 602111, Metaphyseal dysplasia, Spahr type - 250400