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618479.1
Home
Subject Details
Country
Lebanon
HPO Terms
Hypotonia; Neurodevelopmental delay; Narrow forehead; Corneal dystrophy; Absence of labia majora; Agenesis of cerebellar vermis; Pain insensitivity
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005584.5:c.279_286del
2
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Remarks
Elder sister reported to have hydrocephalus and global development delay
References
Rad et al. 2018
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