610329.2.2

Country

United Arab Emirates
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_032193.4:c.172G>A1

Remarks

Father of 610329.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610329.2.1United Arab EmiratesFetal pericardial effusion; Neonatal respiratory distress; Microcephaly; Ventriculomegaly; Pancytopenia; Elevated hepatic transaminase; Left ventricular hypertrophy; Global developmental delay; Seizure; Cerebral atrophyMaleYesYesOlder sibling with global developmental delay died in childhood of hypertrophic cardiomyopathy
610329.2.3United Arab EmiratesFemaleYesMother of 610329.2.1
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