277440.1.1

Country

Lebanon

HPO Terms

Hypocalcemia ; Spasticity ; Bilateral tonic-clonic seizure with generalized onset ; Osteoporosis ; Metaphyseal irregularity ; Respiratory tract infection ; Pneumonia ; Cardiac arrest ; Death in childhood ; Normal scalp hair growth

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001017535.1:c.1190A>C	2		Vitamin D-Dependent Rickets, Type II

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Remarks

Proband

References

Andary et al, 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277440.1.2	Lebanon		Male	Yes		Unaffected father of 277440.1.1
277440.1.3	Lebanon		Female	Yes		Unaffected mother of 277440.1.1