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131300.1
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Subject Details
Country
Lebanon
HPO Terms
Bone pain; Psychomotor retardation; Poor speech
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000660.7:c.652C>T
1
Camamurati-Engelmann Disease
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Remarks
Parents from the same village
References
Jalkh et al. 2019
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