617013.2

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

Remarks

'Patient 2' in the publication

References

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