AARS1-related leukoencephalopathy

Findings

No curated finding names AARS1-related leukoencephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• leukodystrophy

Narrower terms (3)

• developmental and epileptic encephalopathy, 29
• leukoencephalopathy, hereditary diffuse, with spheroids 2
• trichothiodystrophy 8, nonphotosensitive