142000.1

Country

Lebanon

HPO Terms

Hypochromia; Microcytic anemia; Cryptorchidism; Cleft palate; Deeply set eye; Hypoplastic toenails
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000519.4:c.428C>T1

Remarks

Proband (M1 in the publication) is of mixed Cypriot-Lebanese descent
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