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248800.3.2
Home
Subject Details
Country
United Arab Emirates
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
1
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Remarks
Father of 248800.3.1
References
Nair et al. 2016
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
248800.3.1
United Arab Emirates
Ataxia; Cerebellar atrophy; Dysmetria; Dysdiadochokinesis; Kyphosis; Clinodactyly; Intention tremor; Delayed speech and language development
Male
Yes
248800.3.3
United Arab Emirates
Female
Mother of 248800.3.1
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