312750.11

Country

Lebanon

HPO Terms

Intellectual disability; Delayed speech and language development; Stereotypical hand wringing
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Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004992.3:c.1164_1184delinsCTGAGCCCCAGGACTTGAGCANA

Remarks

Patient with atypical Rett syndrome
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