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266100.10
Home
Subject Details
Country
Lebanon
HPO Terms
Global developmental delay; Seizure; EEG with temporal sharp waves; Dilation of lateral ventricles
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001182.4:c.239T>G
2
Epilepsy, Pyridoxine Dependent
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References
Haidar et al, 2018;
Jalkh et al. 2019
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266100.8
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266100.9
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Yes
Back to search Result
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