The pathophysiology of<unk>  begins with normal function of Non-homologous end-joining factor 1 gene. NHEJ1 encodes a protein which helps repair of breaks in double-stranded DNA. It might additionally act as a connection between XRCC4 and other NHEJ factors (at DNA ends) When a mutation occurs in NHEJ1, then one sees that nucleotide deletions cause V(D)J recombination, signal joints, to be affected. V(D)J recombination is a genetic recombination that happens in early stages of B and T cell maturation.
Cernunnos deficiency
Craniodiaphyseal dysplasia
Lethal congenital contracture syndrome
Congenital distal spinal muscular atrophy
Pseudo-Hurler polydystrophy
Spinal muscular atrophies
Caudal regression syndrome
Chondrodystrophy