HBRF

248800.3.1

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Country

United Arab Emirates

HPO Terms

Ataxia; Cerebellar atrophy; Dysmetria; Dysdiadochokinesis; Kyphosis; Clinodactyly; Intention tremor; Delayed speech and language development
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT 2
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References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
248800.3.2 United Arab Emirates Male Father of 248800.3.1
248800.3.3 United Arab Emirates Female Mother of 248800.3.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.