Hypomyelinating leukodystrophy-3 (HLD3)
Hypomyelinating leukodystrophy
Pediatric diseases
General description
Hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder caused by pathogenic variants in the AIMP1 gene and inherited in an autosomal recessive manner.
The disorder presents in early infancy with microcephaly, nystagmus, severe intellectual disability, delayed motor development, lack of speech acquisition, and peripheral spasticity.
White matter lesion
Non-SOL
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CerebrumCerebral white matter
Corpus callosum
Non-SOL
-
Corpus callosum
Cerebral atrophy
Non-SOL
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Cerebrum