Search Phenotypes

Haplotype with homozygous deficiency JBH17, CDC45-related

Sasaki et al. (2021): "A novel variant AC_000174.1:g.74743512G>T of CDC45 in JBH_17 was located in a splicing donor site at a distance of 5 bp, affecting pre-mRNA splicing."

OMIA ID: 2626Inheritance: 5Characterised: YesYear: 2021