248300.3.1

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  2. Subject Details

Country

Tunisia

HPO Terms

Palmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020427.3:c.82del2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
248300.3.2TunisiaPalmoplantar keratoderma; Interdigital fissuresFemaleYesYesMother of 248300.3.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.