Affected individuals experience severe joint contractures, muscle wasting, atrophy, and respiratory insufficiency [22]. Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) is a severe autosomal recessive disorder caused by a mutation in the PI4KA gene (MIM600286). Here, PI4KA is linked to leukodystrophy.