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305100.2
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Subject Details
Country
Egypt
HPO Terms
Hypohidrosis; Sparse hair; Agenesis of incisor; Agenesis of molar; Prominent supraorbital ridges; Depressed nasal bridge; Palmoplantar hyperkeratosis; ;
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001399.4:c.463C>T
1
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
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Remarks
de novo mutation
References
Gaczkowska et al. 2016
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