Search Ontology:
Human Disease

early-onset dystonia and/or spastic paraplegia

Term ID
DOID:0070445
Synonyms
Definition
A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/34636445/
References
Ontology
Human Disease   ( DOID:0070445 )
Relationships
is a type of
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Genes Involved
Zebrafish Models