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618774.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Attention deficit hyperactivity disorder; Global developmental delay
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002430.3:c.1579C>T
1
CEBALID Syndrome
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Remarks
de novo mutation
References
Saleh et al. 2021
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