218340.14.1

  1. Home
  2. Subject Details

Country

Saudi Arabia

HPO Terms

Seizure; Profound global developmental delay; Microphthalmia; Chorioretinal coloboma
Back to search Result
Sex

Female

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.1A>G1
NM_138425.4:c.152T>A1
Download Table

Remarks

Parents belong to the same tribe

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.