250620.1.1

Lebanon

Neurodegeneration; Dystonia; Progressive spastic quadriplegia; Focal T2 hyperintense basal ganglia lesion; Progressive encephalopathy

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Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014362.4:c.196C>T			3-Hydroxyisobutyryl-Coa Hydrolase Deficiency

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
250620.1.2	Lebanon	Neurodegeneration; Dystonia; Progressive spastic quadriplegia; Focal T2 hyperintense basal ganglia lesion; Progressive encephalopathy	Male	Yes	Yes	Sibling of 250620.1.1

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