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227650.6
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Subject Details
Country
Lebanon
HPO Terms
Dilated cardiomyopathy; Hearing impairment; Ectopic kidney; Splenomegaly; Chromosomal breakage induced by crosslinking agents; Hepatocellular adenoma
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000135.4:c.4261-2A>C
2
Fanconi Anemia, Complementation Group A
NM_000135.4:c.688G>A
2
Fanconi Anemia, Complementation Group A
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References
Farah et al. 2020
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