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617013.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Motor regression; Dysphagia; Loss of speech; Hypermanganesemia; Increased serum zinc
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Sex
Female
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001128431.4:c.751-9C>G
2
Hypermanganesemia With Dystonia 2
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Remarks
'Patient 2' in the publication
References
Rodan et al. 2018
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