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612674.5.1
Home
Subject Details
Country
Algeria
HPO Terms
Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Demyelinating peripheral neuropathy; Hearing impairment; Gait ataxia; Limb ataxia
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Sex
Female
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001042472.3:c.846_852dup
2
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract
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References
Fiskerstrand et al. 2010
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
612674.5.2
Algeria
Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs
Female
Yes
Relative of 612674.5.1
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