241500.3.1

Country

Egypt

HPO Terms

Delayed closure of the anterior fontanelle; Short stature; Developmental regression; Abnormality of bone mineral density; Low alkaline phosphatase; Delayed dental eruption; Multiple fractures; Osteopenia

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000478.6:c.1064T>C	2	NA	Hypophosphatasia, Infantile

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Remarks

Patient 'HPP109' in the publication.

References

Tenorio et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
241500.3.2	Egypt		Male			Father of 241500.3.1
241500.3.3	Egypt		Female			Mother of 241500.3.1