244460.1

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  2. Subject Details

Country

Saudi Arabia

HPO Terms

Hypocalcemia; Abnormal facial shape; Seizure; Global developmental delay; Micrognathia
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001079515.2:c.155_166del2NA
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
244460.2Saudi ArabiaFailure to thrive; Decreased response to growth hormone stimulation test; Hyperparathyroidism; Deeply set eyeFemaleYesYes
244460.3Saudi ArabiaHypoparathyroidism; Hypocalcemia; NephrocalcinosisFemaleYesYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.