NKX6-2

Parents

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.