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610090.2
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Seizure
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Sex
Male
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_018129.4:c.674G>T
2
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
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Remarks
Patient had a brother with intractable epilepsy and global developmental delay who passed away at 19 months of age, presumably with the same mutation. Belongs to the same tribe as 610090.1.1.
References
Fathalla et al. 2018
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
610090.3
United Arab Emirates
Seizure; Global developmental delay
Male
Yes
Belongs to the same tribe as 610090.1.1
610090.4
United Arab Emirates
Seizure; Infantile spasms
Female
Yes
Belongs to the same tribe as 610090.1.1
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