Search Ontology:
Human Disease

hypomyelinating leukodystrophy 15

Term ID
DOID:0070398
Synonyms
  • HLD15
Definition
A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. https://pubmed.ncbi.nlm.nih.gov/29576217/
References
Ontology
Human Disease   ( DOID:0070398 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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