259775.2

Country

Saudi Arabia

HPO Terms

Global developmental delay; Abnormal facial shape
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020223.4:c.1225C>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
259775.3Saudi ArabiaIntrauterine growth retardation; Premature birth following premature rupture of fetal membranes; Extremely preterm birth; Abnormal facial shape; Neonatal respiratory distress; Neonatal deathFemaleYesYesMother has history of two previous deliveries with neonatal anomalies.
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