146200.1

Country

United Arab Emirates

HPO Terms

Intellectual disability; Hypoparathyroidism
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000315.3:c.128G>A2

Remarks

Similarly affected brother
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