617247.2

Saudi Arabia

Facial palsy; Microcephaly; Absent thumb; Absent radius; Absent scaphoid

Male

Yes

Variant Name	Allele Count	Associated Disease
NM_005431.2:c.643C>T	2	Fanconi Anemia, Complementation Group U

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617247.1	Saudi Arabia	Progressive microcephaly; Multiple cafe-au-lait spots; Strabismus; Abnormal facial shape; Failure to thrive; Pancytopenia; Chromosome breakage; Hip dysplasia	Female	Yes	Yes	Similarly affected sibling
617247.3	Saudi Arabia	Non-obstructive azoospermia; Short stature; Renal hypoplasia	Male			Limited evidence of Fanconi Anemia