Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017668.3:c.658C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614019.3.1 | Saudi Arabia | Partial agenesis of the corpus callosum; Diffuse cerebral atrophy; Cranial asymmetry | Male | Yes | Yes | |
614019.3.2 | Saudi Arabia | Female | Yes | Yes | Relative of 614019.3.1 |