Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 10
This disease is a progressive neurologic disorder characterized by motor dysfunction, speech impairment, and impaired cognition. It is caused by homozygous or compound heterozygous mutation in the mitochondrial cytidine monophosphate (UMP-CMP) kinase-2 gene (CMPK2) on chromosome 2p25.