Hypomyelinating Leukodystrophy 9 (HLD9)
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.