CHANARIN-DORFMAN SYNDROME or
Severe Neurodevelopmental Syndrome
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. (Am J Hum Genet 100: 650-658, 2017)
Prevalence and architecture of de novo mutations in developmental disorders. (Nature 542: 433-438, 2017)
Look up phenotypes associated with PPM1D in Decipher
List of phenotypes that have been assigned to the G2P entry.