243500.5.1

Country

United Arab Emirates

HPO Terms

Metabolic acidosis; Feeding difficulties in infancy; Lethargy; Thrombocytopenia; Cerebral hemorrhage; Enlarged cisterna magna; Intellectual disability; Behavioral abnormality; Tremor

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002225.5:c.1175G>A	2		Isovaleric Acidemia

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Remarks

Index patient

References

Hertecant et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
243500.5.2	United Arab Emirates	Metabolic acidosis; Vomiting	Female	No	Yes	Sister of 243500.5.1
243500.5.3	United Arab Emirates	Asymptomatic	Female	No	Yes	Sister of 243500.5.1
243500.5.4	United Arab Emirates	Aborted fetus		No	Yes	Sibling of 243500.5.1