Autosomal recessive diseases of AGMO are rare, and the exact prevalence is unknown.
Autosomal recessive primary microcephaly (MCPH): A homozygous frameshift variant in AGMO has been reported in two male siblings of consanguineous parents with syndromic microcephaly.
Neurodevelopmental disabilities: In two individuals with neurodevelopmental disabilities, rare nonsense, in frame deletion, and missense biallelic variants in the AGMO gene were found.
All of these patients with neurodevelopmental features are likely to be within the spectrum of the can condition.
Relapses in visceral leishmaniasis: Ten children from three families suffering from relapses in visceral leischmaniasis, a severe and lethal form of leishmaniasis presenting with weight loss, fever, hepatosplenomegaly, and lymphadenopathy, were found to carry two mutations in the AGMO gene.
AGMO