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Human Disease

hypomyelinating leukodystrophy 3

Term ID
DOID:0060790
Synonyms
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0060790 )
Relationships
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Genes Involved
Zebrafish Models