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615030.1
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Subject Details
Country
Lebanon
HPO Terms
Neurodevelopmental delay; Ataxia; Spastic diplegia; Aplasia/hypoplasia of the extremities
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_183075.3:c.533G>C
2
Spastic Paraplegia 56, Autosomal Recessive
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References
Jalkh et al. 2019
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