Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017668.3:c.684_685del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614019.7.2 | Saudi Arabia | Microcephaly; Severe global developmental delay; Growth delay; Agenesis of corpus callosum; Simplified gyral pattern | Female | Yes | Yes | Sister of 614019.7.1 |
614019.7.3 | Saudi Arabia | Male | Father of 614019.7.1 | |||
614019.7.4 | Saudi Arabia | Female | Mother of 614019.7.1 |