nuclear export mediator factor
OMIM: 608378
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Hypotonia, Global developmental delay, Intellectual disability, Axonal neuropathy, Ataxia, Abnormal brain imaging, Kyphosis, Scoliosis, Tremor, Respiratory distress