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

• ICD10CM:E75.2
• MIM:260600
• ORDO:280293

Ontology

Human Disease   ( DOID:0060790 )