ATN1

PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494