DMXL2

PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 81, MIM 618663, Ohtahara syndrome
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
Sensorineural Hearing Loss, ORPHA90636, Epileptic encephalopathy, early infantile, 81, 618663, ?Polyendocrine-polyneuropathy syndrome, 616113
R-numbers: R67
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Deafness, autosomal dominant 71, OMIM:617605