NKX3-2

PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylo-megaepiphyseal-metaphyseal dysplasia 613330