248300.5.2

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

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020427.3:c.82del	2		Mal de Meleda

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Remarks

Sister of 248300.5.1

References

Charfeddine et al. 2003

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
248300.5.1	Tunisia	Palmoplantar keratoderma; Thickened skin; Palmoplantar hyperhidrosis; Flexion contracture of finger; Cone-shaped epiphyses of the distal phalanges of the hand; Nail dystrophy	Male	Yes	Yes	The patient's maternal grandfather was similarly affected