230500.6

Country

United Arab Emirates

HPO Terms

GM1-ganglioside accumulation
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000404.4:c.451G>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
230500.1United Arab EmiratesGM1-ganglioside accumulationFemaleNo
230500.2United Arab EmiratesGM1-ganglioside accumulationMaleNo
230500.3United Arab EmiratesGM1-ganglioside accumulationMaleNo
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