Female
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003482.3:c.11679del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
147920.3 | United Arab Emirates | Global developmental delay; Abnormal heart morphology | Female | No | No | de novo mutation |
147920.5 | United Arab Emirates | Global developmental delay; Abnormal facial shape | Male | No | No | de novo mutation |
147920.6 | United Arab Emirates | Diaphragmatic eventration; Global developmental delay; Abnormal facial shape; Microcephaly; Hypotonia | Male | No | No | de novo mutation |
147920.7 | United Arab Emirates | Global developmental delay; Attention deficit hyperactivity disorder | Female | No | No | de novo mutation |
147920.8 | United Arab Emirates | Microphthalmia; Coloboma; Microcornea; Microtia; Atrial septal defect; Ventricular septal defect; Horseshoe kidney; Global developmental delay; Seizure; Periventricular leukomalacia | Male | No | No | de novo mutation |