256800.5.1

Country

Kuwait

HPO Terms

Pain insensitivity; Anhidrosis
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002529.4:c.850+1G>A2NA

Remarks

Patient from 'family KI-105' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
256800.5.2KuwaitPain insensitivity; AnhidrosisFemaleYesSister of 256800.5.1
256800.5.GKuwaitRelatives of 256800.5.1 & 256800.5.2 (parents + 1 sister)
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