226650.G.5

Country

Yemen

HPO Terms

Abnormality of skin pigmentation; Palmoplantar keratoderma; Alopecia; Nail dystrophy; Oral mucosal blisters; Genital blistering; Anemia; Failure to thrive

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Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000228.3:c.1942delG			Epidermolysis Bullosa, Junctional 1A, Intermediate

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Remarks

Unknown number of patients from 'family 1' in the publication

References

Nakano et al. 2002