OTUD6B

OTU domain containing 6B
OMIM: 612021
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452
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
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452