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Metadata
DOID DOID:0060790
Name hypomyelinating leukodystrophy 3
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.
https://www.ncbi.nlm.nih.gov/pubmed/21092922, https://www.ncbi.nlm.nih.gov/pubmed/24958424
Synonyms

HLD3 [EXACT]

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation [EXACT]

Xrefs

ICD10CM:E75.2

OMIM:260600

ORDO:280293

Relationships

is_a hypomyelinating leukodystrophy

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