Autosomal recessive primary microcephaly (MCPH):
variants: p.Glu324LysfsTer12 & p.Glu324LysfsTer12
Neurodevelopmental disabilities:
variants: p.Trp130Ter & p.Gly238Cys; p.Gly144Arg & p.Tyr236del
Relapses in visceral leishmaniasis:
variants: p.Lys234Arg & p.Arg405*
AGMO