605534.G.1

Country

Syria

HPO Terms

Intellectual disability, moderate; Seizure
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001304504.2:c.694C>G

Remarks

Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. Group of 5 family members
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