252500.3

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Country

Saudi Arabia

HPO Terms

Skeletal dysplasia; Proptosis; Short neck; Thoracic hypoplasia; Congenital bilateral hip dislocation
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024312.4:c.3503_3504del2NA
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
252500.1Saudi ArabiaUnknown
252500.2Saudi ArabiaInfantile onset
252500.4Saudi ArabiaRecurrent fractures; Neonatal hypotonia; Recurrent lower respiratory tract infectionsFemaleYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.