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118220.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Muscle weakness; Distal muscle weakness; Areflexia; Hammertoe; Scoliosis
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000304.4:c.449G>T
1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
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References
Monies et al. 2017
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