CHANARIN-DORFMAN SYNDROME or
Severe Neurodevelopmental Syndrome
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. (Am J Hum Genet 102: 175-187, 2018)
Prevalence and architecture of de novo mutations in developmental disorders. (Nature 542: 433-438, 2017)
Look up phenotypes associated with KMT5B in Decipher
List of phenotypes that have been assigned to the G2P entry.