Disease burden
The PUF60-associated multisystem disorder is rare and its disease burden is unknown.
Clinical characteristics
Individuals with PUF60-associated multisystem disorder have delay in development and additional abnormalities in other organs.
Molecular characteristics
The recurrence risk in siblings of individuals with PUF60-associated disorders is low, i.e. <1%.
Management
There is no causal treatment. General treatment of individuals relates to alleviating symptoms and improving quality of life.