604292.1

Country

Lebanon

HPO Terms

Scarring alopecia of scalp ; Coarse hair ; Sparse eyebrow ; Sparse eyelashes ; Blepharitis ; Oligodontia ; Nail dystrophy ; Thin upper lip vermilion ; Low hanging columella ; Smooth tongue

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003722.4:c.1748A>T	1		Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3

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References

Kawai et al, 2018