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614707.2.2
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Subject Details
Country
Lebanon
HPO Terms
Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy ;
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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_024531.4:c.916G>A
2
Brown-Vialetto-Van Laere Syndrome 2
NM_024531.4:c.419C>T
2
Brown-Vialetto-Van Laere Syndrome 2
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Remarks
Bother of 614707.2.1
References
Srour et al, 2014
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
614707.2.1
Lebanon
Gait ataxia; Hypotonia; Areflexia; sensorineural hearing impairment; Sensory axonal neuropathy ;
Female
Yes
Yes
614707.2.3
Lebanon
Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy ;
Female
Yes
Yes
First cousin of 614707.2.1
614707.2.4
Lebanon
Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy
Male
Yes
Yes
First cousin of 614707.2.1
614707.2.5
Lebanon
Gait ataxia; Hypotonia; Areflexia; Sensorineural hearing impairment; Sensory axonal neuropathy
Male
Yes
Yes
First cousin of 614707.2.1
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