227650.9

Lebanon

Absent radius; Absent thumb; Microcephaly; Cafe-au-lait spot; Tracheoesophageal fistula; Bone marrow hypocellularity

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000135.4:c.3518G>A	2		Fanconi Anemia, Complementation Group A