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612015.1
Home
Subject Details
Country
Lebanon
HPO Terms
Seizure; Hypotonia; Global developmental delay; Delayed speech and language development; Facial hemangioma; Strabismus; Reduced factor XI activity; Brain atrophy
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Sex
Female
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_052859.3:c.902A>G
2
Congenital Disorder of Glycosylation, Type In
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References
Bastaki et al. 2018
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