OBO ID: DOID:0060790
Term Name: hypomyelinating leukodystrophy 3 Search Ontology:
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)
OTHER hypomyelinating leukodystrophy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AIMP1 Leukodystrophy, hypomyelinating, 3 260600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None