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Metadata
ID DOID:0060938
Name dystonia 31
Definition A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.
https://pubmed.ncbi.nlm.nih.gov/34596301/
Xrefs

MIM:619565

Synonyms

DYT31 [EXACT]

ZECH-BOESCH SYNDROME [EXACT]

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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