619072.1.2

  1. Home
  2. Subject Details

Country

United Arab Emirates

HPO Terms

Death in infancy; Arthrogryposis multiplex congenita; Seizure; Brain atrophy
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001013839.4:c.809-2A>G2
Download Table

Remarks

Sister of 619072.1.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619072.1.1United Arab EmiratesDeath in infancy; Microcephaly; Arthrogryposis multiplex congenita; Seizure; Brain atrophyFemaleYesYes
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.