Links
[1] http://omim.org/entry/617687
[2] https://disorders.eyes.arizona.edu/references/homozygous-mutations-tbc1d23-lead-non-degenerative-form-pontocerebellar-hypoplasia
[3] https://disorders.eyes.arizona.edu/references/homozygous-truncating-variants-tbc1d23-cause-pontocerebellar-hypoplasia-and-alter