273750.1.1

Country

Jordan

HPO Terms

Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001168370.2:c.203G>A2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.1.2JordanShort stature; Macrocephaly; Abnormal facial shape; Clinodactyly; Slender long boneMaleYesYesSibling of 273750.1.1
273750.1.3JordanShort stature; Macrocephaly; Abnormal facial shape; Clinodactyly; Slender long boneMaleYesYesSibling of 273750.1.1
273750.1.4JordanIntrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; ClinodactylyFemaleYesYesPaternal first cousin of 273750.1.3
273750.1.5JordanFemaleMother of 273750.1.1
273750.1.6JordanMaleFather of 273750.1.1
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