OTUD5

OTU deubiquitinase 5
OMIM: 300713
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 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056