166200.5

  1. Home
  2. Subject Details

Country

Saudi Arabia

HPO Terms

Hypotonia; Microcephaly; Osteopenia; Abnormal facial shape; Failure to thrive
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000088.4:c.841G>A1NA
Download Table

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
166200.1Saudi ArabiaOsteopenia; Recurrent fracturesFemaleNo
166200.2Saudi ArabiaOsteopeniaMaleNoDe novo mutation
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.