610968.6

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Country

United Arab Emirates

HPO Terms

Oligohydramnios; Fractures of the long bones; Bowing of the long bones ; Multiple joint contractures; Relative macrocephaly; Decreased body weight; Short stature; Blue sclerae; Plagiocephaly; Motor delay
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_021939.4:c.831dup2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610968.1United Arab EmiratesRecurrent fracturesMaleYesYes
610968.2United Arab EmiratesRecurrent fractures; Osteopenia; ScoliosisFemaleYesDe novo mutation
610968.3United Arab EmiratesOsteopenia; Recurrent fracturesFemaleYes
610968.4United Arab EmiratesOsteopenia; Recurrent fracturesMaleYes
610968.5United Arab EmiratesRecurrent fracturesFemaleYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.