ATAD1

ATPase family, AAA domain containing 1
OMIM: 614452
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 4, OMIM:618011
R-numbers: R66
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 4, 618011