LTBP3

latent transforming growth factor beta binding protein 3
OMIM: 602090
PanelMode of inheritanceDetails
4 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dental anomalies and short stature, 601216, Amelogenesis Imperfecta, syndromic AI with brachyolmia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Geleophysic dysplasia 3 617809, Dental anomalies and short stature 610216, Geleophysic dysplasia 3 617809