NFKB activating protein
OMIM: 300766
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Global developmental delay, Intellectual disability, Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type #301039