ECEL1

endothelin converting enzyme like 1
OMIM: 605896
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 5D, 615065
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 5D, 615065
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 5D 615065
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DISTAL ARTHROGRYPOSIS TYPE 5D