227650.8

Lebanon

Thrombocytopenia; Anemia; Multiple cafe-au-lait spots; Absent radius; Absent thumb; History of bone marrow transplant

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000135.4:c.190-1G>C	2		Fanconi Anemia, Complementation Group A