Search Ontology:
Human Disease

leukodystrophy and cerebellar atrophy

Term ID
DOID:0070800
Synonyms
  • LDCA
Definition
A leukodystrophy characterized by neurodevelopmental defects, leukodystrophy, and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the LSM7 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/39420558/
References
Ontology
Human Disease   ( DOID:0070800 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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