DDX6

DEAD-box helicase 6
OMIM: 600326
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Generalized hypotonia, Global developmental delay, Intellectual disability, Unsteady gait, Abnormality of the cardiovascular system, Abnormality of the genitourinary system, Abnormality of limbs