About   Help   FAQ
Disease Ontology Browser
hypomyelinating leukodystrophy 3 (DOID:0060790)
Alliance: disease page
Synonyms: HLD3; Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Alt IDs: OMIM:260600, ICD10CM:E75.2, ORDO:280293
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory