610968.4

Country

Saudi Arabia

HPO Terms

Osteopenia; Recurrent fractures
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_021939.4:c.1016_1023dup2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610968.1Saudi ArabiaRecurrent fracturesMaleYesYes
610968.2Saudi ArabiaRecurrent fractures; Osteopenia; ScoliosisFemaleYesDe novo mutation
610968.3Saudi ArabiaOsteopenia; Recurrent fracturesFemaleYes
610968.5Saudi ArabiaRecurrent fracturesFemaleYes
610968.6Saudi ArabiaOligohydramnios; Fractures of the long bones; Bowing of the long bones ; Multiple joint contractures; Relative macrocephaly; Decreased body weight; Short stature; Blue sclerae; Plagiocephaly; Motor delayFemaleNoYes
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