hypomyelinating leukodystrophy 3

Summary
Synonym
  • HLD3
  • Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Definition
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
Super Class
autosomal recessive disease hypomyelinating leukodystrophy
Disease Ontology
DOID:0060790
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9255 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024