606260.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Microcephaly; Global developmental delay; Spasticity; Infantile spasms
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015458.4:c.1415A>T2

Remarks

Two sisters with ID
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