248300.9.6

Country

Tunisia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020427.3:c.296G>A1

Remarks

Father of 248300.9.2 and 248300.9.3

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
248300.9.1TunisiaPalmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophyFemaleYesYes
248300.9.2TunisiaPalmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophyFemaleYesYesDouble first cousin of 248300.9.1
248300.9.3TunisiaPalmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophyFemaleYesYesDouble first cousin of 248300.9.1, Sister of 248300.9.2
248300.9.4TunisiaMaleFather of 248300.9.1
248300.9.5TunisiaPalmoplantar keratoderma; Interdigital fissuresFemaleYesNoMother of 248300.9.1
248300.9.7TunisiaPalmoplantar keratoderma ; Interdigital fissuresFemaleYesNoMother of 248300.9.2 and 248300.9.3
248300.9.8TunisiaPalmoplantar keratodermaFemaleYesYesSister of 248300.9.1
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