615031.1.G

United Arab Emirates

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Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014844.5:c.3418T>G	4	NA

Parents+2 silings of 615031.1.1 and 615031.1.2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615031.1.1	United Arab Emirates	Global developmental delay; Developmental regression; Hypotonia; Impaired smooth pursuit; Gait ataxia; Peripheral neuropathy; Myelopathy; Choking episodes; Leukoencephalopathy; Death in childhood	Male	Yes	Yes	Proband
615031.1.2	United Arab Emirates	Global developmental delay; Hypotonia	Female	Yes	Yes	Sister of 615031.1.1

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