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604320.2
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Subject Details
Country
Lebanon
HPO Terms
Intrauterine growth retardation; Equinovarus deformity; Diaphragmatic weakness; Decreased distal sensory nerve action potential; EMG: chronic denervation signs
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002180.2:c.707T>G
2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
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References
Wilmshurst et al. 2001;
Grohmann et al. 2003
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