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257980.G.1
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Subject Details
Country
Lebanon
HPO Terms
Dry skin ; Dry hair ; Sparse eyebrow ; Thin nail ; Agenesis of incisor ; Oligodontia ; Conical incisor
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_025216.3:c.697G>T
40
Odontoonychodermal Dysplasia
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Remarks
Group of 20 affected individuals belonging to a large, highly consanguineous family.
References
Sfeir et al, 2017
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