ADAM22

ADAM metallopeptidase domain 22
OMIM: 603709
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADAM22-associated developmental and epileptic encephalopathy
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Epileptic encephalopathy, early infantile, 61 OMIM:617933, developmental and epileptic encephalopathy, 61 MONDO:0033370