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610832.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Specific learning disability; Global developmental delay; Abnormal facial shape; Hypopigmented macule; Cafe-au-lait spot; Short stature
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_024675.4:c.3350+4A>G
2
Fanconi Anemia, Complementation group N
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References
Saleh et al. 2021
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