JAM3

junctional adhesion molecule 3
OMIM: 606871
PanelMode of inheritanceDetails
4 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730, Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730