213200.4.2

Country

Lebanon

HPO Terms

Neurodevelopmental delay; Failure to thrive; Optic atrophy; Generalized hypotonia; Lactic acidosis; Cerebellar atrophy; Left ventricular noncompaction cardiomyopathy; Fatal liver failure in infancy

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015160.3:c.1129G>A	1		Spinocerebellar Ataxia, Autosomal Recessive 2
NM_015160.3:c.1066G>A	1		Spinocerebellar Ataxia, Autosomal Recessive 2

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Remarks

First cousin of 213200.4.1

References

Joshi et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
213200.4.1	Lebanon	Neurodevelopmental delay; Failure to thrive; Optic atrophy; Generalized hypotonia; Lactic acidosis; Cerebellar atrophy	Female	Yes	No
213200.4.3	Lebanon		Female			Mother of 213200.4.1
213200.4.4	Lebanon		Male			Father of 213200.4.1