277440.6.1

Country

United Arab Emirates

HPO Terms

Hypocalcemia ; Rickets ; Broad carpal bones ; Failure to thrive; Respiratory tract infection ; Motor delay ; Frontal bossing ; Hypophosphatemia ; Proptosis; Rachitic rosary ; Generalized hypotonia

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000376.3:c.821G>A	2		Vitamin D-Dependent Rickets, Type II

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References

Aljubeh et al. 2011