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	Allele Frequency	Associated Disease	Associated Gene
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	HPO Terms	Sex	Family History	Parental Consanguinity	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