Clinical features
A diagnosis is suspected in individuals presenting very soon after birth with stiffness, coordination problems, eye movement abnormalities and delayed milestones.
A diagnosis is established when these signs are accompanied with reduced myelination on MRI and biallelic mutations in NKX6-2.
Prevalence
The prevalence is yet unknown. So far, 15 individuals of different ethnic background have been reported.
Inheritance
Inheritance is autosomal recessive.