259450.2

Country

Saudi Arabia

HPO Terms

Kyphosis; Spinal cord compression; Recurrent fractures; Brachycephaly; Kyphoscoliosis
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_021939.4:c.831dup2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
259450.1Saudi ArabiaMultiple prenatal fractures; Osteopenia; Scoliosis; Wormian bonesMaleYesYes
259450.3Saudi ArabiaArthrogryposis multiplex congenita; Global developmental delay; Generalized hypotonia; Macrocephaly; Metopic synostosis; Ventricular septal defect; Hearing impairment; Abnormal facial shapeMaleNoYes
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