NKX6-2

Professionals

Clinical features

A diagnosis is suspected in individuals with clinical features of spastic ataxia and motor or global psychomotor delay with MRI signs of hypomyelination 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.