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255800.G.1
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Subject Details
Country
Tunisia
HPO Terms
Myotonia; Blepharophimosis; Short stature
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005529.6:c.4740G>A
4+
Schwartz-Jampel Syndrome, Type 1
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Remarks
Family with unknown number of affected individuals
References
Nicole et al. 2000
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