DMXL2

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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensorineural Hearing Loss, ORPHA90636, Epileptic encephalopathy, early infantile, 81, 618663, ?Polyendocrine-polyneuropathy syndrome, 616113