LTBP1

latent transforming growth factor beta binding protein 1
OMIM: 150390
PanelMode of inheritanceDetails
2 panels
R-numbers: R100
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIE, OMIM:619451, craniosynostosis, MONDO:0015469
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
inherited cutis laxa MONDO:0100237, Cutis laxa, autosomal recessive, type IIE, OMIM:619451