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601455.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Weakness of facial musculature; Lower limb muscle weakness; Pes cavus; Impaired proprioception; Sensory ataxia; Hearing impairment
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006096.4:c.761del
2
Charcot-Marie-Tooth Disease, Demyelinating, Type 4D
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References
Monies et al. 2017
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