UBTF

upstream binding transcription factor, RNA polymerase I
OMIM: 600673
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
developmental regression, motor and language regression, developmental delay, Neurodegeneration, childhood-onset, with brain atrophy, 617672