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300884.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Infantile spasms; Hypotonia; Global developmental delay; Gastroesophageal reflux; Cerebral visual impairment; Hypsarrhythmia; Cerebral cortical atrophy
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Sex
Female
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001099922.3:c.320A>G
1
Developmental and Epileptic Encephalopathy 36
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References
Bastaki et al. 2018;
Hamici et al. 2017
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