300088.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Specific learning disability; Developmental regression; Bilateral tonic-clonic seizure
Back to search Result
Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001184880.2:c.577_578del1
© CAGS 2025. All rights reserved.