609053.1

Country

Lebanon

HPO Terms

Growth delay; Multiple cafe-au-lait spots; Abnormality of bone marrow cell morphology
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001113378.2:c.2986C>A2
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