dystonia 35, childhood-onset

Term ID

DOID:0060955

Synonyms

Definition

A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. https://pubmed.ncbi.nlm.nih.gov/34542157/

References

• OMIM:619921

Ontology

Human Disease   ( DOID:0060955 )