SLC39A13

solute carrier family 39 member 13
OMIM: 608735
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350, Spondylodysplastic EDS, spEDS-SLC39A13, Ehlers-Danlos Syndrome, Spondylodysplastic Type
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350