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615030.3
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Subject Details
Country
Saudi Arabia
HPO Terms
Hypertonia; Spasticity; Hypotonia; Brisk reflexes
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Sex
Female
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_183075.3:c.947A>T
2
Spastic Paraplegia 56, Autosomal Recessive
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References
Monies et al. 2017
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