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115150.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Cerebral visual impairment ; Seizure ; Stridor ; Constipation ; Global developmental delay
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004333.6:c.1914T>G
1
Cardiofaciocutaneous Syndrome 1
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References
Al-Shamsi et al. 2016
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