259775.3

Country

Lebanon

HPO Terms

Intrauterine growth retardation; Premature birth following premature rupture of fetal membranes; Extremely preterm birth; Abnormal facial shape; Neonatal respiratory distress; Neonatal death
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020223.4:c.1363+1G>A2

Remarks

Mother has history of two previous deliveries with neonatal anomalies.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
259775.2LebanonGlobal developmental delay; Abnormal facial shapeMaleYesYes
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