Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK. Hum Genet. 2019 Dec; 138(11-12):1259-1266. Epub 2019 Sep 25.