Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_012205.3:c.483dup | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617660.1.1 | Iraq | Vertebral segmentation defect; Atrial septal defect; Renal hypoplasia; Vesicoureteral reflux; Sensorineural hearing impairment; Talipes; Intellectual disability | Male | No | Yes | |
617660.1.2 | Iraq | Male | No | Father of 617660.1.1 |