312750.8

Country

Lebanon

HPO Terms

Developmental regression; Intellectual disability; Stereotypical hand wringing; Delayed speech and language development
Back to search Result
Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004992.3:c.763C>TNA

Remarks

Patient with typical Rett syndrome
© CAGS 2024. All rights reserved.