273750.7

Country

Saudi Arabia

HPO Terms

Short stature; Abnormal facial shape; Failure to thrive
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Sex

Female

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014780.5:c.2863-1G>C2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.6Saudi ArabiaShort stature; Abnormal heart morphology; Osteopenia; Midface retrusionFemaleYes
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