610329.2.1

Country

United Arab Emirates

HPO Terms

Fetal pericardial effusion; Neonatal respiratory distress; Microcephaly; Ventriculomegaly; Pancytopenia; Elevated hepatic transaminase; Left ventricular hypertrophy; Global developmental delay; Seizure; Cerebral atrophy

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_032193.4:c.172G>A	2	Aicardi-Goutieres Syndrome 3

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Remarks

Older sibling with global developmental delay died in childhood of hypertrophic cardiomyopathy

References

Kumar et al. 2019

Related Subjects

Subject Id	Country	Sex	Family History	Remarks
610329.2.2	United Arab Emirates	Male	Yes	Father of 610329.2.1
610329.2.3	United Arab Emirates	Female	Yes	Mother of 610329.2.1