256800.4.2

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.284del2NA

Remarks

Sister of 256800.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
256800.4.1KuwaitPain insensitivity; AnhidrosisFemaleYesPatient from 'family KI-103' in the publication
256800.4.GKuwaitRelatives of 256800.4.1 & 256800.4.2 (parents + 2 brothers)
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