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Metadata
ID DOID:0060955
Name dystonia 35, childhood-onset
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/
Xrefs

MIM:619921

Parent Relationships

is_a dystonia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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