609942.1

  1. Home
  2. Subject Details

Country

Saudi Arabia

HPO Terms

Short stature; Supravalvar pulmonary stenosis; Intellectual disability; Motor delay; Abnormal facial shape; Periventricular leukomalacia; Hypotonia; Redundant skin
Back to search Result
Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004985.5:c.458A>T1
Download Table

References

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