203700.G.1

Country

United Arab Emirates

HPO Terms

Seizure ; Neurodevelopmental delay ; Hypotonia ; Abnormality of the liver
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Family History

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_002693.3:c.3286C>T 14

Remarks

7 patients from five families

References

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