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101600.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Micrognathia; Depressed nasal bridge; Short philtrum; Short neck; Low-set ears
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000141.5:c.943G>A
1
Pfeiffer Syndrome
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References
Monies et al. 2017
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