RARS related hypomyelination

Hypomyelinating Leukodystrophy 9 (HLD9)


Autosomal recessive

Inheritance from both parents will result in the disease

Age range at onset:

Up to one year old

Specialists you may see:


Typically characterised by severe spasticity, delayed psychomotor development, nystagmus and ataxia. Microcephaly has also been observed.


Mutations in the RARS gene cause this condition. The RARS gene creates the multi-RNA synthetase complex; levels of this in those with HLD9 are significantly reduced.