615031.1.2

Country

United Arab Emirates

HPO Terms

Global developmental delay; Hypotonia
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_014844.5:c.3418T>G 2 NA

Remarks

Sister of 615031.1.1

References

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.G United Arab Emirates Parents+2 silings of 615031.1.1 and 615031.1.2
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