ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17
OMIM: 607511
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani 4 syndrome, recessive, 613195
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani syndrome type 4
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)