614876.2.1

Country

United Arab Emirates

HPO Terms

Generalized hypotonia; Hyporeflexia; Jaundice; Hepatomegaly; Coarse facial features; Ventricular septal defect; Inferior cerebellar vermis hypoplasia; Decreased activity of mitochondrial respiratory chain; Increased CSF lactate; Death in infancy

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004813.4:c.460+5G>A	2	NA	Peroxisome Biogenesis Disorder 8A (Zellweger)

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Remarks

'Patient 1' in the publication

References

Salpietro et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614876.2.2	United Arab Emirates		Male			Father of 614876.2.1
614876.2.3	United Arab Emirates		Female			Mother of 614876.2.1