The diagnosis of<unk>  is suggested by the clinical features. It can be confirmed by finding a mutation in the POLD1 gene, a service offered by the molecular genetics team at the Royal Devon and Exeter NHS Foundation Trust / Exeter University who originally discovered the genetic cause.
MDP syndrome
SUNCT syndrome
MASA syndrome
Crome syndrome
TAN syndrome
IPEX syndrome
WHIM syndrome
Dressler syndrome