273750.6

Country

Saudi Arabia

HPO Terms

Short stature; Abnormal heart morphology; Osteopenia; Midface retrusion
Back to search Result
Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014780.5:c.263del2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.7Saudi ArabiaShort stature; Abnormal facial shape; Failure to thriveFemaleNo
Back to search Result
© CAGS 2022. All rights reserved.