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612674.2.2
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Demyelinating motor neuropathy; Ataxia; Hearing impairment; Rod-cone dystrophy; Cataract
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Sex
Male
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
14 kb Del NC_000020.11:g.25383511_25397601delinsGG
2
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract
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Remarks
Relative of 612674.2.1
References
Fiskerstrand et al. 2010
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
612674.2.1
United Arab Emirates
Motor polyneuropathy; Ataxia; Hearing impairment; Rod-cone dystrophy; Cataract
Male
Yes
612674.2.3
United Arab Emirates
Motor polyneuropathy; Ataxia; Hearing impairment; Cataract
Female
Yes
Relative of 612674.2.1
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