617983.1.2

Country

Iraq

HPO Terms

Intellectual disability, mild; Small for gestational age; Short stature; Microcephaly
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001975.3:c.710C>T2
NM_014865.4:c.23T>C2

Remarks

Relative of 617983.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
617983.1.1IraqIntellectual disability, mild; Small for gestational age; Short stature; MicrocephalyMaleYesYesAuthors classified these gene variants as "confident" novel candidates for neurodevelopmental disorders
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