DNAJB4

DnaJ heat shock protein family (Hsp40) member B4
OMIM: 611327
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy with early respiratory failure