617013.1.1

United Arab Emirates

Generalized dystonia; Failure to thrive; Dysarthria; Motor delay; Hypermanganesemia

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Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001128431.4:c.751-9C>G	2		Hypermanganesemia With Dystonia 2

'Patient 1' in the publication