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616570.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000123.4:c.2902T>C
2
NA
Cerebrooculofacioskeletal Syndrome 3
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References
Mahfouz et al. 2020
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