614886.1.1

Country

Saudi Arabia

HPO Terms

Hypotonia; Global developmental delay; Cranial asymmetry; Asymmetry of the ears; Wide anterior fontanel; Wide nasal bridge; Cerebral atrophy; CNS demyelination; Hyperbilirubinemia; Metabolic acidosis; Proteinuria; Sepsis; Hepatic failure; Death in infancy

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002857.4:c.320del	2		Peroxisome Biogenesis Disorder 12A (Zellweger)

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Remarks

Patient died at 16 months of age due to sepsis, coagulopathy, and liver failure.

References

Mohamed et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614886.1.2	Saudi Arabia		Male			Father of 614886.1.1
614886.1.3	Saudi Arabia		Female			Mother of 614886.1.1