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606693.1
Home
Subject Details
Country
Lebanon
HPO Terms
Parkinsonism; Supranuclear gaze palsy; Myokymia; Mental deterioration; Spasticity; Hyperreflexia
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Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022089.3:c.1550C>T
2
Kufor-Rakeb Syndrome
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References
Grünewald et al. 2012
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