312750.2

Country

Lebanon

HPO Terms

Developmental regression; Intellectual disability; Stereotypical hand wringing; Delayed speech and language development; Motor delay
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Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004992.3:c.502C>TNA

Remarks

Patient with typical Rett syndrome
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