604804.3

Country

Saudi Arabia

HPO Terms

Delayed speech and language development; Microcephaly; Short stature; Failure to thrive
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018249.6:c.4672C>T2
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