Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005522.5:c.185del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601536.5 | Saudi Arabia | Hearing impairment; Facial grimacing | Female | Yes | Patient from 'family/pedigree KK' in the publication | |
601536.7 | Saudi Arabia | Hearing impairment; Global developmental delay; Autistic behavior; Seizure; Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis; Patent ductus arteriosus; Interrupted aortic arch | Female | Yes | 'Patient B1' in the publication |