256600.1

Country

Lebanon

HPO Terms

Delayed speech and language development; Intellectual disability; Hypotonia; Motor delay; Joint hypermobility; Inability to walk
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003560.4:c.2370T>G2
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