610733.3

Country

Saudi Arabia

HPO Terms

Microcephaly; Motor delay; Seizure; Aggressive behavior; Blindness; Abnormality of the eye
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Sex

Female

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005633.4:c.1490G>A1
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