617247.1

Country

Saudi Arabia

HPO Terms

Progressive microcephaly; Multiple cafe-au-lait spots; Strabismus; Abnormal facial shape; Failure to thrive; Pancytopenia; Chromosome breakage; Hip dysplasia

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

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Remarks

Similarly affected sibling

References

Maddirevula et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617247.2	Saudi Arabia	Facial palsy; Microcephaly; Absent thumb; Absent radius; Absent scaphoid	Male		Yes
617247.3	Saudi Arabia	Non-obstructive azoospermia; Short stature; Renal hypoplasia	Male			Limited evidence of Fanconi Anemia