Genomics England
GMS Panels
Panels
Genes and Entities

NEMF

nuclear export mediator factor
OMIM: 608378
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, Global developmental delay, Intellectual disability, Axonal neuropathy, Ataxia, Abnormal brain imaging, Kyphosis, Scoliosis, Tremor, Respiratory distress