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308205.3
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Subject Details
Country
Algeria
HPO Terms
Follicular hyperkeratosis; Congenital alopecia totalis; Photophobia; Nail dystrophy; Unilateral cryptorchidism
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015884.3:c.1430A>T
1
IFAP Syndrome with or without Bresheck Syndrome
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References
Bornholdt et al. 2013
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